Linked Data
dbSNP Id:
rs200890663
ExAC:
11:113283290 C / T
gnomAD v2:
11-113283290-C-T
gnomAD v3:
11-113412568-C-T
gnomAD v4:
11-113412568-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113412568C>T , CM000673.2:g.113412568C>T | GRCh38 |
| NC_000011.9:g.113283290C>T , CM000673.1:g.113283290C>T | GRCh37 |
| NC_000011.8:g.112788500C>T | NCBI36 |
| NG_008841.1:g.67712G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.1126G>A MANE Select | ENSP00000354859.3:p.Ala376Thr | |
| ENST00000346454.7:c.1039G>A | ENSP00000278597.5:p.Ala347Thr | |
| ENST00000362072.7:c.1126G>A | ENSP00000354859.3:p.Ala376Thr | |
| ENST00000538967.5:c.1132G>A | ENSP00000438215.1:p.Ala378Thr | |
| ENST00000542968.5:c.1126G>A | ENSP00000442172.1:p.Ala376Thr | |
| ENST00000544518.5:c.1123G>A | ENSP00000441068.1:p.Ala375Thr | |
| NM_000795.3:c.1126G>A | NP_000786.1:p.Ala376Thr | |
| NM_016574.3:c.1039G>A | NP_057658.2:p.Ala347Thr | |
| XM_017017296.2:c.1126G>A | XP_016872785.1:p.Ala376Thr | |
| NM_000795.4:c.1126G>A MANE Select | NP_000786.1:p.Ala376Thr | |
| NM_016574.4:c.1039G>A | NP_057658.2:p.Ala347Thr |