Linked Data
dbSNP Id:
rs1225360831
gnomAD v2:
22-29709166-C-T
gnomAD v3:
22-29313177-C-T
gnomAD v4:
22-29313177-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29313177C>T , CM000684.2:g.29313177C>T | GRCh38 |
| NC_000022.10:g.29709166C>T , CM000684.1:g.29709166C>T | GRCh37 |
| NC_000022.9:g.28039166C>T | NCBI36 |
| NG_032959.1:g.11171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216101.7:c.*124G>A MANE Select | ENSP00000216101.6:n.*124G>A | |
| ENST00000216101.6:c.*124G>A | ENSP00000216101.6:n.*124G>A | |
| ENST00000401450.3:c.*682G>A | ENSP00000386095.3:n.*682G>A | |
| NM_006477.4:c.*124G>A | NP_006468.1:n.*124G>A | |
| XM_011529821.1:c.*124G>A | XP_011528123.1:n.*124G>A | |
| XM_011529822.1:c.*124G>A | XP_011528124.1:n.*124G>A | |
| XM_011529823.1:c.*124G>A | XP_011528125.1:n.*124G>A | |
| NM_006477.5:c.*124G>A MANE Select | NP_006468.1:n.*124G>A |