Linked Data
dbSNP Id:
rs1442974250
gnomAD v2:
15-89753355-C-T
gnomAD v3:
15-89210124-C-T
gnomAD v4:
15-89210124-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89210124C>T , CM000677.2:g.89210124C>T | GRCh38 |
| NC_000015.9:g.89753355C>T , CM000677.1:g.89753355C>T | GRCh37 |
| NC_000015.8:g.87554359C>T | NCBI36 |
| NG_008116.1:g.16568G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268125.10:c.*161G>A MANE Select | ENSP00000268125.5:n.*161G>A | |
| ENST00000268125.9:c.*161G>A | ENSP00000268125.5:n.*161G>A | |
| ENST00000563254.1:c.487G>A | ||
| NM_000326.4:c.*161G>A | NP_000317.1:n.*161G>A | |
| XM_011521870.1:c.*161G>A | XP_011520172.1:n.*161G>A | |
| XM_011521871.1:c.*161G>A | XP_011520173.1:n.*161G>A | |
| XM_011521872.1:c.*161G>A | XP_011520174.1:n.*161G>A | |
| XM_011521870.2:c.*161G>A | XP_011520172.1:n.*161G>A | |
| XM_017022460.1:c.*161G>A | XP_016877949.1:n.*161G>A | |
| NM_000326.5:c.*161G>A MANE Select | NP_000317.1:n.*161G>A |