Linked Data
dbSNP Id:
rs34399297
ExAC:
5:148206372 G / T
gnomAD v2:
5-148206372-G-T
gnomAD v4:
5-148826809-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148826809G>T , CM000667.2:g.148826809G>T | GRCh38 |
| NC_000005.9:g.148206372G>T , CM000667.1:g.148206372G>T | GRCh37 |
| NC_000005.8:g.148186565G>T | NCBI36 |
| NG_016421.1:g.5217G>T | |
| NG_016421.2:g.5217G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.-23G>T MANE Select | ENSP00000305372.4:n.-23G>T | |
| ENST00000305988.5:c.-23G>T | ENSP00000305372.4:n.-23G>T | |
| NM_000024.5:c.-23G>T | NP_000015.1:n.-23G>T | |
| NM_000024.6:c.-23G>T MANE Select | NP_000015.2:n.-23G>T |