Linked Data
ClinVar Variation Id:
447577
dbSNP Id:
rs760488958
ExAC:
14:105180579 C / T
gnomAD v2:
14-105180579-C-T
gnomAD v3:
14-104714242-C-T
gnomAD v4:
14-104714242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714242C>T , CM000676.2:g.104714242C>T | GRCh38 |
| NC_000014.8:g.105180579C>T , CM000676.1:g.105180579C>T | GRCh37 |
| NC_000014.7:g.104251624C>T | NCBI36 |
| NG_027684.1:g.29637C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3080C>T MANE Select | ENSP00000376410.4:p.Thr1027Met | |
| ENST00000617571.5:c.3076C>T | ENSP00000483829.2:p.Arg1026Cys | |
| ENST00000674520.1:c.3075C>T | ENSP00000502593.1:n.3075C>T | |
| ENST00000674631.1:c.1118C>T | ENSP00000502830.1:p.Thr373Met | |
| ENST00000674662.1:c.3084C>T | ENSP00000501895.1:n.3084C>T | |
| ENST00000674757.1:c.3085C>T | ENSP00000502202.1:p.Arg1029Cys | |
| ENST00000674822.1:c.2964C>T | ENSP00000501552.1:n.2964C>T | |
| ENST00000674846.1:c.3075C>T | ENSP00000502431.1:n.3075C>T | |
| ENST00000674857.1:c.3069C>T | ENSP00000501687.1:n.3069C>T | |
| ENST00000674960.1:c.2938C>T | ENSP00000501841.1:n.2938C>T | |
| ENST00000674991.1:c.2330C>T | ENSP00000502004.1:p.Thr777Met | |
| ENST00000675207.1:c.3176C>T | ENSP00000502644.1:p.Thr1059Met | |
| ENST00000675329.1:c.3056C>T | ENSP00000502287.1:p.Thr1019Met | |
| ENST00000675481.1:c.3080C>T | ENSP00000502723.1:p.Thr1027Met | |
| ENST00000675583.1:c.3009C>T | ENSP00000501740.1:n.3009C>T | |
| ENST00000675603.1:n.320C>T | ||
| ENST00000675638.1:c.3041-42C>T | ENSP00000501647.1:n.3041-42C>T | |
| ENST00000675724.1:c.3018C>T | ENSP00000502576.1:n.3018C>T | |
| ENST00000675771.1:c.2343C>T | ENSP00000502104.1:n.2343C>T | |
| ENST00000675797.1:c.2485C>T | ENSP00000502023.1:n.2485C>T | |
| ENST00000675809.1:c.3135C>T | ENSP00000502587.1:n.3135C>T | |
| ENST00000675930.1:c.3080C>T | ENSP00000502456.1:p.Thr1027Met | |
| ENST00000675980.1:c.3098C>T | ENSP00000502520.1:p.Thr1033Met | |
| ENST00000676016.1:c.2979C>T | ENSP00000502412.1:n.2979C>T | |
| ENST00000676366.1:c.3080C>T | ENSP00000501605.1:p.Thr1027Met | |
| ENST00000252527.8:c.1484C>T | ENSP00000252527.8:p.Thr495Met | |
| ENST00000330634.11:c.3080C>T | ENSP00000376406.3:p.Thr1027Met | |
| ENST00000392634.8:c.3080C>T | ENSP00000376410.4:p.Thr1027Met | |
| ENST00000617571.4:c.-1054C>T | ENSP00000483829.1:n.-1054C>T | |
| NM_001031714.3:c.3080C>T | NP_001026884.3:p.Thr1027Met | |
| NM_022489.3:c.3080C>T | NP_071934.3:p.Thr1027Met | |
| XM_005268004.3:c.3176C>T | XP_005268061.1:p.Thr1059Met | |
| XM_005268005.3:c.3176C>T | XP_005268062.1:p.Thr1059Met | |
| XR_943507.1:n.3305C>T | ||
| XM_005268004.4:c.3176C>T | XP_005268061.1:p.Thr1059Met | |
| XM_005268005.4:c.3176C>T | XP_005268062.1:p.Thr1059Met | |
| XM_017021595.1:c.3176C>T | XP_016877084.1:p.Thr1059Met | |
| NM_001031714.4:c.3080C>T | NP_001026884.3:p.Thr1027Met | |
| NM_022489.4:c.3080C>T MANE Select | NP_071934.3:p.Thr1027Met |