Linked Data
dbSNP Id:
rs565259601
gnomAD v2:
22-32870723-G-T
gnomAD v3:
22-32474736-G-T
gnomAD v4:
22-32474736-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474736G>T , CM000684.2:g.32474736G>T | GRCh38 |
| NC_000022.10:g.32870723G>T , CM000684.1:g.32870723G>T | GRCh37 |
| NC_000022.9:g.31200723G>T | NCBI36 |
| NG_016001.1:g.5017G>T | |
| NG_016001.2:g.5017G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.11:c.-267G>T | ENSP00000266087.7:n.-267G>T | |
| ENST00000420700.5:c.-267G>T | ENSP00000406155.1:n.-267G>T | |
| NM_012179.3:c.-267G>T | NP_036311.3:n.-267G>T | |
| XM_011530106.1:c.-440G>T | XP_011528408.1:n.-440G>T | |
| XM_024452207.1:c.-457G>T | XP_024307975.1:n.-457G>T |