Linked Data
dbSNP Id:
rs777937157
ExAC:
19:7125296 C / T
gnomAD v2:
19-7125296-C-T
gnomAD v3:
19-7125285-C-T
gnomAD v4:
19-7125285-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125285C>T , CM000681.2:g.7125285C>T | GRCh38 |
| NC_000019.9:g.7125296C>T , CM000681.1:g.7125296C>T | GRCh37 |
| NC_000019.8:g.7076296C>T | NCBI36 |
| NG_008852.2:g.173716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3256G>A MANE Select | ENSP00000303830.4:p.Val1086Met | |
| ENST00000302850.9:c.3256G>A | ENSP00000303830.4:p.Val1086Met | |
| ENST00000341500.9:c.3220G>A | ENSP00000342838.4:p.Val1074Met | |
| ENST00000593970.1:n.102G>A | ||
| NM_000208.2:c.3256G>A | NP_000199.2:p.Val1086Met | |
| NM_000208.3:c.3256G>A | NP_000199.2:p.Val1086Met | |
| NM_001079817.1:c.3220G>A | NP_001073285.1:p.Val1074Met | |
| NM_001079817.2:c.3220G>A | NP_001073285.1:p.Val1074Met | |
| XM_011527988.1:c.3331G>A | XP_011526290.1:p.Val1111Met | |
| XM_011527989.1:c.3295G>A | XP_011526291.1:p.Val1099Met | |
| XM_011527988.2:c.3253G>A | XP_011526290.2:p.Val1085Met | |
| XM_011527989.3:c.3217G>A | XP_011526291.2:p.Val1073Met | |
| NM_000208.4:c.3256G>A MANE Select | NP_000199.2:p.Val1086Met | |
| NM_001079817.3:c.3220G>A | NP_001073285.1:p.Val1074Met |