Linked Data
dbSNP Id:
rs41274586
ExAC:
10:79580976 G / A
gnomAD v2:
10-79580976-G-A
gnomAD v3:
10-77821218-G-A
gnomAD v4:
10-77821218-G-A
COSMIC:
COSM3686881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77821218G>A , CM000672.2:g.77821218G>A | GRCh38 |
| NC_000010.10:g.79580976G>A , CM000672.1:g.79580976G>A | GRCh37 |
| NC_000010.9:g.79250982G>A | NCBI36 |
| NG_011484.1:g.110373C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372391.7:c.3266C>T MANE Select | ENSP00000361467.2:p.Pro1089Leu | |
| ENST00000372391.6:c.3266C>T | ENSP00000361467.2:p.Pro1089Leu | |
| ENST00000424842.5:c.286-1200C>T | ENSP00000394797.1:n.286-1200C>T | |
| ENST00000459739.5:n.321C>T | ||
| ENST00000468332.6:c.3268C>T | ENSP00000473298.1:n.3268C>T | |
| ENST00000475613.6:n.1611C>T | ||
| NM_004747.3:c.3266C>T | NP_004738.3:p.Pro1089Leu | |
| XM_005270276.3:c.3254C>T | XP_005270333.1:p.Pro1085Leu | |
| XM_006718056.2:c.2383-1200C>T | XP_006718119.1:n.2383-1200C>T | |
| XM_006718057.2:c.3266C>T | XP_006718120.1:p.Pro1089Leu | |
| XM_011540341.1:c.3089C>T | XP_011538643.1:p.Pro1030Leu | |
| XM_011540342.1:c.2996C>T | XP_011538644.1:p.Pro999Leu | |
| XM_011540343.1:c.2936C>T | XP_011538645.1:p.Pro979Leu | |
| XM_011540344.1:c.2930C>T | XP_011538646.1:p.Pro977Leu | |
| XM_011540345.1:c.2801C>T | XP_011538647.1:p.Pro934Leu | |
| XM_011540346.1:c.3266C>T | XP_011538648.1:p.Pro1089Leu | |
| XM_011540347.1:c.2348C>T | XP_011538649.1:p.Pro783Leu | |
| XR_945874.1:n.3297C>T | ||
| XM_005270276.4:c.3254C>T | XP_005270333.1:p.Pro1085Leu | |
| XM_006718056.3:c.2383-1200C>T | XP_006718119.1:n.2383-1200C>T | |
| XM_006718057.3:c.3266C>T | XP_006718120.1:p.Pro1089Leu | |
| XM_011540341.3:c.3089C>T | XP_011538643.1:p.Pro1030Leu | |
| XM_011540344.2:c.2930C>T | XP_011538646.1:p.Pro977Leu | |
| XM_011540346.2:c.3266C>T | XP_011538648.1:p.Pro1089Leu | |
| XM_011540347.2:c.2348C>T | XP_011538649.1:p.Pro783Leu | |
| XM_017016913.1:c.2984C>T | XP_016872402.1:p.Pro995Leu | |
| XM_017016914.1:c.2936C>T | XP_016872403.1:p.Pro979Leu | |
| XM_017016915.1:c.2348C>T | XP_016872404.1:p.Pro783Leu | |
| XM_024448250.1:c.1811C>T | XP_024304018.1:p.Pro604Leu | |
| XR_945874.2:n.3308C>T | ||
| NM_004747.4:c.3266C>T MANE Select | NP_004738.3:p.Pro1089Leu |