Linked Data
ClinVar Variation Id:
311334
dbSNP Id:
rs141882615
ExAC:
13:20716317 C / T
gnomAD v2:
13-20716317-C-T
gnomAD v3:
13-20142178-C-T
gnomAD v4:
13-20142178-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20142178C>T , CM000675.2:g.20142178C>T | GRCh38 |
| NC_000013.10:g.20716317C>T , CM000675.1:g.20716317C>T | GRCh37 |
| NC_000013.9:g.19614317C>T | NCBI36 |
| NG_016399.1:g.23867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241125.4:c.1111G>A MANE Select | ENSP00000241125.3:p.Ala371Thr | |
| ENST00000241125.3:c.1111G>A | ENSP00000241125.3:p.Ala371Thr | |
| NM_021954.3:c.1111G>A | NP_068773.2:p.Ala371Thr | |
| XM_005266353.1:c.1111G>A | XP_005266410.1:p.Ala371Thr | |
| XM_011535048.1:c.1111G>A | XP_011533350.1:p.Ala371Thr | |
| XM_011535048.2:c.1111G>A | XP_011533350.1:p.Ala371Thr | |
| NM_021954.4:c.1111G>A MANE Select | NP_068773.2:p.Ala371Thr |