Linked Data
ClinVar Variation Id:
192223
ClinVar RCV Id:
RCV000172820
RCV000239355
RCV000555261
RCV000567860
RCV000758628
RCV001357402
RCV001798624
dbSNP Id:
rs141893001
ExAC:
7:6018320 T / C
gnomAD v2:
7-6018320-T-C
gnomAD v3:
7-5978689-T-C
gnomAD v4:
7-5978689-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5978689T>C , CM000669.2:g.5978689T>C | GRCh38 |
| NC_000007.13:g.6018320T>C , CM000669.1:g.6018320T>C | GRCh37 |
| NC_000007.12:g.5984846T>C | NCBI36 |
| NG_008466.1:g.35418A>G , LRG_161:g.35418A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1578A>G | ENSP00000514615.2:n.*1578A>G | |
| ENST00000699840.2:c.2179A>G | ENSP00000514638.2:p.Thr727Ala | |
| ENST00000699930.2:c.2074A>G | ENSP00000514695.2:p.Thr692Ala | |
| ENST00000406569.8:c.1679-975A>G | ENSP00000514464.1:n.1679-975A>G | |
| ENST00000644110.2:c.*1776A>G | ENSP00000496392.2:n.*1776A>G | |
| ENST00000699752.1:c.2026A>G | ENSP00000514561.1:p.Thr676Ala | |
| ENST00000699753.1:c.*1603A>G | ENSP00000514562.1:n.*1603A>G | |
| ENST00000699754.1:c.1984A>G | ENSP00000514563.1:p.Thr662Ala | |
| ENST00000699755.1:c.*1581A>G | ENSP00000514564.1:n.*1581A>G | |
| ENST00000699756.1:c.*1769A>G | ENSP00000514565.1:n.*1769A>G | |
| ENST00000699757.1:c.*1439A>G | ENSP00000514566.1:n.*1439A>G | |
| ENST00000699758.1:c.*1439A>G | ENSP00000514567.1:n.*1439A>G | |
| ENST00000699759.1:n.3036A>G | ||
| ENST00000699760.1:c.1864A>G | ENSP00000514568.1:p.Thr622Ala | |
| ENST00000699761.1:c.1777A>G | ENSP00000514569.1:p.Thr593Ala | |
| ENST00000699762.1:c.1609A>G | ENSP00000514570.1:p.Thr537Ala | |
| ENST00000699763.1:c.*1272A>G | ENSP00000514571.1:n.*1272A>G | |
| ENST00000699764.1:c.*500A>G | ENSP00000514572.1:n.*500A>G | |
| ENST00000699765.1:c.*1271-932A>G | ENSP00000514573.1:n.*1271-932A>G | |
| ENST00000699766.1:c.2182A>G | ENSP00000514574.1:p.Thr728Ala | |
| ENST00000699767.1:c.2182A>G | ENSP00000514575.1:p.Thr728Ala | |
| ENST00000699768.1:c.2175-975A>G | ENSP00000514576.1:n.2175-975A>G | |
| ENST00000699811.1:c.1777A>G | ENSP00000514614.1:p.Thr593Ala | |
| ENST00000699813.1:n.2295A>G | ||
| ENST00000699814.1:c.1805A>G | ||
| ENST00000699815.1:c.*1713A>G | ENSP00000514616.1:n.*1713A>G | |
| ENST00000699816.1:c.*1072A>G | ENSP00000514617.1:n.*1072A>G | |
| ENST00000699817.1:c.*1776A>G | ENSP00000514618.1:n.*1776A>G | |
| ENST00000699818.1:c.1777A>G | ENSP00000514619.1:p.Thr593Ala | |
| ENST00000699819.1:c.*1339A>G | ENSP00000514620.1:n.*1339A>G | |
| ENST00000699820.1:c.*120A>G | ENSP00000514621.1:n.*120A>G | |
| ENST00000699821.1:c.1777A>G | ENSP00000514622.1:p.Thr593Ala | |
| ENST00000699822.1:c.*1634A>G | ENSP00000514623.1:n.*1634A>G | |
| ENST00000699823.1:c.1777A>G | ENSP00000514624.1:p.Thr593Ala | |
| ENST00000699824.1:c.*1685A>G | ENSP00000514625.1:n.*1685A>G | |
| ENST00000699825.1:c.1621A>G | ENSP00000514626.1:p.Thr541Ala | |
| ENST00000699826.1:c.*1581A>G | ENSP00000514627.1:n.*1581A>G | |
| ENST00000699827.1:c.2014A>G | ENSP00000514628.1:p.Thr672Ala | |
| ENST00000699828.1:c.*1272A>G | ENSP00000514629.1:n.*1272A>G | |
| ENST00000699833.1:n.3954A>G | ||
| ENST00000699837.1:c.1777A>G | ENSP00000514635.1:p.Thr593Ala | |
| ENST00000699838.1:c.*2082A>G | ENSP00000514636.1:n.*2082A>G | |
| ENST00000699839.1:c.2368A>G | ENSP00000514637.1:p.Thr790Ala | |
| ENST00000699916.1:c.*1439A>G | ENSP00000514684.1:n.*1439A>G | |
| ENST00000699917.1:c.*1631A>G | ENSP00000514685.1:n.*1631A>G | |
| ENST00000699918.1:c.*1683A>G | ENSP00000514686.1:n.*1683A>G | |
| ENST00000699919.1:c.*1769A>G | ENSP00000514687.1:n.*1769A>G | |
| ENST00000699920.1:c.*1818A>G | ENSP00000514688.1:n.*1818A>G | |
| ENST00000699928.1:c.*120A>G | ENSP00000514693.1:n.*120A>G | |
| ENST00000699951.1:c.*1278A>G | ENSP00000514706.1:n.*1278A>G | |
| ENST00000699952.1:c.804-5147A>G | ENSP00000514707.1:n.804-5147A>G | |
| ENST00000265849.12:c.2182A>G MANE Select | ENSP00000265849.7:p.Thr728Ala | |
| ENST00000642292.1:c.1777A>G | ENSP00000495524.1:p.Thr593Ala | |
| ENST00000642456.1:c.1777A>G | ENSP00000493814.1:p.Thr593Ala | |
| ENST00000643595.1:c.*1581A>G | ENSP00000494497.1:n.*1581A>G | |
| ENST00000644110.1:c.1864A>G | ENSP00000496392.1:p.Thr622Ala | |
| ENST00000265849.11:c.2182A>G | ENSP00000265849.7:p.Thr728Ala | |
| ENST00000382321.5:c.979A>G | ENSP00000371758.4:p.Thr327Ala | |
| ENST00000406569.7:n.1679-975A>G | ||
| ENST00000441476.6:c.1864A>G | ENSP00000392843.2:p.Thr622Ala | |
| NM_000535.5:c.2182A>G , LRG_161t1:c.2182A>G | NP_000526.1:p.Thr728Ala | |
| NR_003085.2:n.2264A>G | ||
| XM_006715742.2:c.2176A>G | XP_006715805.1:p.Thr726Ala | |
| XM_006715744.2:c.1249A>G | XP_006715807.1:p.Thr417Ala | |
| XM_011515427.1:c.2227A>G | XP_011513729.1:p.Thr743Ala | |
| XM_011515428.1:c.2071A>G | XP_011513730.1:p.Thr691Ala | |
| XM_011515429.1:c.1864A>G | XP_011513731.1:p.Thr622Ala | |
| XM_011515430.1:c.1864A>G | XP_011513732.1:p.Thr622Ala | |
| NM_000535.6:c.2182A>G | NP_000526.2:p.Thr728Ala | |
| NM_001322003.1:c.1777A>G | NP_001308932.1:p.Thr593Ala | |
| NM_001322004.1:c.1777A>G | NP_001308933.1:p.Thr593Ala | |
| NM_001322005.1:c.1777A>G | NP_001308934.1:p.Thr593Ala | |
| NM_001322006.1:c.2026A>G | NP_001308935.1:p.Thr676Ala | |
| NM_001322007.1:c.1864A>G | NP_001308936.1:p.Thr622Ala | |
| NM_001322008.1:c.1864A>G | NP_001308937.1:p.Thr622Ala | |
| NM_001322009.1:c.1777A>G | NP_001308938.1:p.Thr593Ala | |
| NM_001322010.1:c.1621A>G | NP_001308939.1:p.Thr541Ala | |
| NM_001322011.1:c.1249A>G | NP_001308940.1:p.Thr417Ala | |
| NM_001322012.1:c.1249A>G | NP_001308941.1:p.Thr417Ala | |
| NM_001322013.1:c.1609A>G | NP_001308942.1:p.Thr537Ala | |
| NM_001322014.1:c.2182A>G | NP_001308943.1:p.Thr728Ala | |
| NM_001322015.1:c.1873A>G | NP_001308944.1:p.Thr625Ala | |
| NR_136154.1:n.2269A>G | ||
| XM_006715744.4:c.1249A>G | XP_006715807.1:p.Thr417Ala | |
| XM_017012342.2:c.1249A>G | XP_016867831.1:p.Thr417Ala | |
| XM_024446800.1:c.1621A>G | XP_024302568.1:p.Thr541Ala | |
| NM_000535.7:c.2182A>G MANE Select | NP_000526.2:p.Thr728Ala | |
| NM_001322003.2:c.1777A>G | NP_001308932.1:p.Thr593Ala | |
| NM_001322004.2:c.1777A>G | NP_001308933.1:p.Thr593Ala | |
| NM_001322005.2:c.1777A>G | NP_001308934.1:p.Thr593Ala | |
| NM_001322006.2:c.2026A>G | NP_001308935.1:p.Thr676Ala | |
| NM_001322008.2:c.1864A>G | NP_001308937.1:p.Thr622Ala | |
| NM_001322009.2:c.1777A>G | NP_001308938.1:p.Thr593Ala | |
| NM_001322010.2:c.1621A>G | NP_001308939.1:p.Thr541Ala | |
| NM_001322011.2:c.1249A>G | NP_001308940.1:p.Thr417Ala | |
| NM_001322012.2:c.1249A>G | NP_001308941.1:p.Thr417Ala | |
| NM_001322013.2:c.1609A>G | NP_001308942.1:p.Thr537Ala | |
| NM_001322014.2:c.2182A>G | NP_001308943.1:p.Thr728Ala | |
| NM_001322015.2:c.1873A>G | NP_001308944.1:p.Thr625Ala | |
| NM_001322007.2:c.1864A>G | NP_001308936.1:p.Thr622Ala |