Linked Data
dbSNP Id:
rs373550309
ExAC:
11:88911723 C / T
gnomAD v2:
11-88911723-C-T
gnomAD v3:
11-89178555-C-T
gnomAD v4:
11-89178555-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178555C>T , CM000673.2:g.89178555C>T | GRCh38 |
| NC_000011.9:g.88911723C>T , CM000673.1:g.88911723C>T | GRCh37 |
| NC_000011.8:g.88551371C>T | NCBI36 |
| NG_008748.1:g.5684C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.602C>T MANE Select | ENSP00000263321.4:p.Ala201Val | |
| ENST00000263321.5:c.602C>T | ENSP00000263321.4:p.Ala201Val | |
| ENST00000526139.1:n.663C>T | ||
| NM_000372.4:c.602C>T | NP_000363.1:p.Ala201Val | |
| XM_011542970.1:c.602C>T | XP_011541272.1:p.Ala201Val | |
| XM_011542970.2:c.602C>T | XP_011541272.1:p.Ala201Val | |
| XR_001748321.1:n.2718-65022G>A | ||
| XR_001748322.1:n.2733-65022G>A | ||
| NM_000372.5:c.602C>T MANE Select | NP_000363.1:p.Ala201Val |