Linked Data
dbSNP Id:
rs745579263
gnomAD v2:
22-29709065-C-T
gnomAD v3:
22-29313076-C-T
gnomAD v4:
22-29313076-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29313076C>T , CM000684.2:g.29313076C>T | GRCh38 |
| NC_000022.10:g.29709065C>T , CM000684.1:g.29709065C>T | GRCh37 |
| NC_000022.9:g.28039065C>T | NCBI36 |
| NG_032959.1:g.11070C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216101.7:c.*225G>A MANE Select | ENSP00000216101.6:n.*225G>A | |
| ENST00000216101.6:c.*225G>A | ENSP00000216101.6:n.*225G>A | |
| ENST00000401450.3:c.*783G>A | ENSP00000386095.3:n.*783G>A | |
| NM_006477.4:c.*225G>A | NP_006468.1:n.*225G>A | |
| XM_011529821.1:c.*225G>A | XP_011528123.1:n.*225G>A | |
| XM_011529822.1:c.*225G>A | XP_011528124.1:n.*225G>A | |
| XM_011529823.1:c.*225G>A | XP_011528125.1:n.*225G>A | |
| NM_006477.5:c.*225G>A MANE Select | NP_006468.1:n.*225G>A |