Linked Data
dbSNP Id:
rs191041003
gnomAD v2:
22-29709129-G-A
gnomAD v3:
22-29313140-G-A
gnomAD v4:
22-29313140-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29313140G>A , CM000684.2:g.29313140G>A | GRCh38 |
| NC_000022.10:g.29709129G>A , CM000684.1:g.29709129G>A | GRCh37 |
| NC_000022.9:g.28039129G>A | NCBI36 |
| NG_032959.1:g.11134G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216101.7:c.*161C>T MANE Select | ENSP00000216101.6:n.*161C>T | |
| ENST00000216101.6:c.*161C>T | ENSP00000216101.6:n.*161C>T | |
| ENST00000401450.3:c.*719C>T | ENSP00000386095.3:n.*719C>T | |
| NM_006477.4:c.*161C>T | NP_006468.1:n.*161C>T | |
| XM_011529821.1:c.*161C>T | XP_011528123.1:n.*161C>T | |
| XM_011529822.1:c.*161C>T | XP_011528124.1:n.*161C>T | |
| XM_011529823.1:c.*161C>T | XP_011528125.1:n.*161C>T | |
| NM_006477.5:c.*161C>T MANE Select | NP_006468.1:n.*161C>T |