Linked Data
ClinVar Variation Id:
3095
dbSNP Id:
rs28941784
ExAC:
12:109998873 G / A
gnomAD v2:
12-109998873-G-A
gnomAD v3:
12-109561068-G-A
gnomAD v4:
12-109561068-G-A
COSMIC:
COSM1946599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109561068G>A , CM000674.2:g.109561068G>A | GRCh38 |
| NC_000012.11:g.109998873G>A , CM000674.1:g.109998873G>A | GRCh37 |
| NC_000012.10:g.108483256G>A | NCBI36 |
| NG_007096.1:g.17430C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545712.7:c.556C>T MANE Select | ENSP00000445920.1:p.Arg186Trp | |
| ENST00000537496.5:c.*121C>T | ENSP00000444793.1:n.*121C>T | |
| ENST00000540016.5:c.400C>T | ENSP00000474582.1:p.Arg134Trp | |
| ENST00000541763.6:c.781C>T | ENSP00000474981.1:n.781C>T | |
| ENST00000544051.5:c.*437C>T | ENSP00000438079.1:n.*437C>T | |
| ENST00000545712.6:c.556C>T | ENSP00000445920.1:p.Arg186Trp | |
| NM_052845.3:c.556C>T | NP_443077.1:p.Arg186Trp | |
| NR_038118.1:n.716C>T | ||
| XM_011538266.1:c.401C>T | XP_011536568.1:p.Pro134Leu | |
| XM_011538267.1:c.401C>T | XP_011536569.1:p.Pro134Leu | |
| XM_011538268.1:c.283C>T | XP_011536570.1:p.Arg95Trp | |
| XM_011538269.1:c.280C>T | XP_011536571.1:p.Arg94Trp | |
| XM_011538267.3:c.401C>T | XP_011536569.1:p.Pro134Leu | |
| XM_011538268.2:c.283C>T | XP_011536570.1:p.Arg95Trp | |
| XM_011538269.2:c.280C>T | XP_011536571.1:p.Arg94Trp | |
| XM_024448961.1:c.556C>T | XP_024304729.1:p.Arg186Trp | |
| NM_052845.4:c.556C>T MANE Select | NP_443077.1:p.Arg186Trp | |
| NR_038118.2:n.667C>T |