Linked Data
dbSNP Id:
rs779048193
ExAC:
8:90958369 T / G
gnomAD v2:
8-90958369-T-G
gnomAD v4:
8-89946141-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89946141T>G , CM000670.2:g.89946141T>G | GRCh38 |
| NC_000008.10:g.90958369T>G , CM000670.1:g.90958369T>G | GRCh37 |
| NC_000008.9:g.91027545T>G | NCBI36 |
| NG_008860.1:g.43531A>C , LRG_158:g.43531A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.3371A>C | ||
| ENST00000517337.2:c.1823A>C | ENSP00000429971.2:p.Lys608Thr | |
| ENST00000523444.2:c.1823A>C | ENSP00000428252.2:p.Lys608Thr | |
| ENST00000697292.1:c.2069A>C | ENSP00000513229.1:p.Lys690Thr | |
| ENST00000697293.1:c.2069A>C | ENSP00000513230.1:p.Lys690Thr | |
| ENST00000697294.1:c.*1680A>C | ENSP00000513231.1:n.*1680A>C | |
| ENST00000697295.1:c.*1378A>C | ENSP00000513232.1:n.*1378A>C | |
| ENST00000697296.1:c.*1737A>C | ENSP00000513233.1:n.*1737A>C | |
| ENST00000697297.1:n.3854A>C | ||
| ENST00000697298.1:c.1823A>C | ENSP00000513234.1:p.Lys608Thr | |
| ENST00000697299.1:c.1823A>C | ENSP00000513235.1:p.Lys608Thr | |
| ENST00000697300.1:c.*1673A>C | ENSP00000513236.1:n.*1673A>C | |
| ENST00000697301.1:c.*1590A>C | ENSP00000513237.1:n.*1590A>C | |
| ENST00000697302.1:c.*1590A>C | ENSP00000513238.1:n.*1590A>C | |
| ENST00000697303.1:c.*1673A>C | ENSP00000513239.1:n.*1673A>C | |
| ENST00000697304.1:c.1757A>C | ENSP00000513240.1:p.Lys586Thr | |
| ENST00000697306.1:c.*2620A>C | ENSP00000513241.1:n.*2620A>C | |
| ENST00000697307.1:c.1846-2775A>C | ENSP00000513242.1:n.1846-2775A>C | |
| ENST00000697308.1:c.2000A>C | ENSP00000513243.1:p.Lys667Thr | |
| ENST00000697309.1:c.2069A>C | ENSP00000513244.1:p.Lys690Thr | |
| ENST00000697310.1:c.2069A>C | ENSP00000513245.1:p.Lys690Thr | |
| ENST00000697311.1:c.2069A>C | ENSP00000513246.1:p.Lys690Thr | |
| ENST00000697312.1:c.*1467A>C | ENSP00000513247.1:n.*1467A>C | |
| ENST00000697313.1:n.2688-10529A>C | ||
| ENST00000697314.1:n.3636+7103A>C | ||
| ENST00000697315.1:c.2069A>C | ENSP00000513248.1:p.Lys690Thr | |
| ENST00000697316.1:n.2190A>C | ||
| ENST00000697317.1:n.2160A>C | ||
| ENST00000265433.8:c.2069A>C MANE Select | ENSP00000265433.4:p.Lys690Thr | |
| ENST00000265433.7:c.2069A>C | ENSP00000265433.3:p.Lys690Thr | |
| ENST00000396252.6:c.*1942A>C | ENSP00000379551.2:n.*1942A>C | |
| ENST00000409330.5:c.1823A>C | ENSP00000386924.1:p.Lys608Thr | |
| ENST00000520325.1:n.485A>C | ||
| ENST00000613033.1:c.180+1683A>C | ENSP00000484487.1:n.180+1683A>C | |
| NM_001024688.2:c.1823A>C | NP_001019859.1:p.Lys608Thr | |
| NM_002485.4:c.2069A>C , LRG_158t1:c.2069A>C | NP_002476.2:p.Lys690Thr | |
| XM_011517044.1:c.2045A>C | XP_011515346.1:p.Lys682Thr | |
| XM_011517045.1:c.1823A>C | XP_011515347.1:p.Lys608Thr | |
| XM_017013460.1:c.1190A>C | XP_016868949.1:p.Lys397Thr | |
| XM_017013462.2:c.1190A>C | XP_016868951.1:p.Lys397Thr | |
| XM_024447163.1:c.1823A>C | XP_024302931.1:p.Lys608Thr | |
| XM_024447164.1:c.1823A>C | XP_024302932.1:p.Lys608Thr | |
| XM_024447165.1:c.1190A>C | XP_024302933.1:p.Lys397Thr | |
| NM_002485.5:c.2069A>C MANE Select | NP_002476.2:p.Lys690Thr | |
| NM_001024688.3:c.1823A>C | NP_001019859.1:p.Lys608Thr |