Linked Data
ClinVar Variation Id:
510
dbSNP Id:
rs137852831
gnomAD v3:
8-41661923-G-A
gnomAD v4:
8-41661923-G-A
PubMed:
PMID:9590147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41661923G>A , CM000670.2:g.41661923G>A | GRCh38 |
| NC_000008.10:g.41519441G>A , CM000670.1:g.41519441G>A | GRCh37 |
| NC_000008.9:g.41638598G>A | NCBI36 |
| NG_012820.1:g.239840C>T | |
| NG_012820.2:g.239840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265709.14:c.5620C>T | ENSP00000265709.8:p.Arg1874Ter | |
| ENST00000522543.6:c.322C>T | ENSP00000430368.1:p.Arg108Ter | |
| ENST00000705521.1:c.5716C>T | ENSP00000516136.1:p.Arg1906Ter | |
| ENST00000705522.1:c.5449C>T | ENSP00000516137.1:p.Arg1817Ter | |
| ENST00000265709.13:c.5620C>T | ENSP00000265709.8:p.Arg1874Ter | |
| ENST00000289734.13:c.5497C>T MANE Select | ENSP00000289734.8:p.Arg1833Ter | |
| ENST00000518715.2:n.506C>T | ||
| ENST00000645531.1:c.1511C>T | ||
| ENST00000265709.12:c.5620C>T | ENSP00000265709.8:p.Arg1874Ter | |
| ENST00000289734.11:c.5497C>T | ENSP00000289734.7:p.Arg1833Ter | |
| ENST00000314214.12:c.322C>T | ENSP00000319123.8:p.Arg108Ter | |
| ENST00000335651.6:c.304-359C>T | ENSP00000335031.6:n.304-359C>T | |
| ENST00000347528.8:c.5497C>T | ENSP00000339620.4:p.Arg1833Ter | |
| ENST00000348036.8:c.303+1736C>T | ENSP00000297744.5:n.303+1736C>T | |
| ENST00000518715.1:n.506C>T | ||
| ENST00000520299.5:c.2975C>T | ||
| ENST00000522231.5:c.322C>T | ENSP00000428750.1:p.Arg108Ter | |
| ENST00000522543.5:c.322C>T | ENSP00000430368.1:p.Arg108Ter | |
| ENST00000524227.5:n.2891C>T | ||
| NM_000037.3:c.5497C>T | NP_000028.3:p.Arg1833Ter | |
| NM_001142445.1:c.322C>T | NP_001135917.1:p.Arg108Ter | |
| NM_001142446.1:c.5620C>T | NP_001135918.1:p.Arg1874Ter | |
| NM_020475.2:c.5497C>T | NP_065208.2:p.Arg1833Ter | |
| NM_020476.2:c.5497C>T | NP_065209.2:p.Arg1833Ter | |
| NM_020477.2:c.5011C>T | NP_065210.2:p.Arg1671Ter | |
| NM_020478.4:c.322C>T | NP_065211.2:p.Arg108Ter | |
| NM_020480.4:c.303+1736C>T | NP_065213.2:n.303+1736C>T | |
| XM_005273476.3:c.5620C>T | XP_005273533.1:p.Arg1874Ter | |
| XM_011544490.1:c.5761C>T | XP_011542792.1:p.Arg1921Ter | |
| XM_011544491.1:c.5761C>T | XP_011542793.1:p.Arg1921Ter | |
| XM_011544492.1:c.5662C>T | XP_011542794.1:p.Arg1888Ter | |
| XM_011544493.1:c.5761C>T | XP_011542795.1:p.Arg1921Ter | |
| XM_011544494.1:c.5716C>T | XP_011542796.1:p.Arg1906Ter | |
| XM_011544495.1:c.5716C>T | XP_011542797.1:p.Arg1906Ter | |
| XM_011544496.1:c.5761C>T | XP_011542798.1:p.Arg1921Ter | |
| XM_011544497.1:c.5596C>T | XP_011542799.1:p.Arg1866Ter | |
| XM_011544498.1:c.5578C>T | XP_011542800.1:p.Arg1860Ter | |
| XM_011544499.1:c.5742+1736C>T | XP_011542801.1:n.5742+1736C>T | |
| XM_011544500.1:c.5596C>T | XP_011542802.1:p.Arg1866Ter | |
| XM_011544501.1:c.5596C>T | XP_011542803.1:p.Arg1866Ter | |
| XM_011544502.1:c.5596C>T | XP_011542804.1:p.Arg1866Ter | |
| XM_011544503.1:c.5230C>T | XP_011542805.1:p.Arg1744Ter | |
| XM_011544504.1:c.5110C>T | XP_011542806.1:p.Arg1704Ter | |
| XM_011544505.1:c.5110C>T | XP_011542807.1:p.Arg1704Ter | |
| XR_949389.1:n.5352C>T | ||
| XM_005273476.4:c.5620C>T | XP_005273533.1:p.Arg1874Ter | |
| XM_011544490.3:c.5761C>T | XP_011542792.1:p.Arg1921Ter | |
| XM_011544491.3:c.5761C>T | XP_011542793.1:p.Arg1921Ter | |
| XM_011544494.3:c.5716C>T | XP_011542796.1:p.Arg1906Ter | |
| XM_011544495.3:c.5716C>T | XP_011542797.1:p.Arg1906Ter | |
| XM_011544496.3:c.5761C>T | XP_011542798.1:p.Arg1921Ter | |
| XM_011544500.2:c.5596C>T | XP_011542802.1:p.Arg1866Ter | |
| XM_011544501.2:c.5596C>T | XP_011542803.1:p.Arg1866Ter | |
| XM_011544502.2:c.5596C>T | XP_011542804.1:p.Arg1866Ter | |
| XM_011544503.3:c.5230C>T | XP_011542805.1:p.Arg1744Ter | |
| XM_011544504.2:c.5110C>T | XP_011542806.1:p.Arg1704Ter | |
| XM_011544505.2:c.5110C>T | XP_011542807.1:p.Arg1704Ter | |
| XM_017013319.2:c.5737C>T | XP_016868808.1:p.Arg1913Ter | |
| XM_017013320.2:c.5743-359C>T | XP_016868809.1:n.5743-359C>T | |
| XM_017013321.1:c.5674C>T | XP_016868810.1:p.Arg1892Ter | |
| XM_017013322.1:c.5665C>T | XP_016868811.1:p.Arg1889Ter | |
| XM_017013323.1:c.5662C>T | XP_016868812.1:p.Arg1888Ter | |
| XM_017013324.1:c.5620C>T | XP_016868813.1:p.Arg1874Ter | |
| XM_017013325.1:c.5578C>T | XP_016868814.1:p.Arg1860Ter | |
| XM_017013326.1:c.5533C>T | XP_016868815.1:p.Arg1845Ter | |
| XM_017013327.2:c.5275C>T | XP_016868816.1:p.Arg1759Ter | |
| XM_017013328.2:c.5230C>T | XP_016868817.1:p.Arg1744Ter | |
| XM_017013329.1:c.5134C>T | XP_016868818.1:p.Arg1712Ter | |
| XM_024447128.1:c.5566C>T | XP_024302896.1:p.Arg1856Ter | |
| NM_000037.4:c.5497C>T MANE Select | NP_000028.3:p.Arg1833Ter | |
| NM_001142445.2:c.322C>T | NP_001135917.1:p.Arg108Ter | |
| NM_001142446.2:c.5620C>T | NP_001135918.1:p.Arg1874Ter | |
| NM_020475.3:c.5497C>T | NP_065208.2:p.Arg1833Ter | |
| NM_020476.3:c.5497C>T | NP_065209.2:p.Arg1833Ter | |
| NM_020477.3:c.5011C>T | NP_065210.2:p.Arg1671Ter | |
| NM_020478.5:c.322C>T | NP_065211.2:p.Arg108Ter | |
| NM_020480.5:c.303+1736C>T | NP_065213.2:n.303+1736C>T |