Linked Data
dbSNP Id:
rs779339777
ExAC:
4:88533553 C / T
gnomAD v2:
4-88533553-C-T
gnomAD v3:
4-87612401-C-T
gnomAD v4:
4-87612401-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612401C>T , CM000666.2:g.87612401C>T | GRCh38 |
| NC_000004.11:g.88533553C>T , CM000666.1:g.88533553C>T | GRCh37 |
| NC_000004.10:g.88752577C>T | NCBI36 |
| NG_011595.1:g.8873C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.215C>T MANE Select | ENSP00000498766.1:p.Thr72Ile | |
| ENST00000282478.7:c.215C>T | ENSP00000282478.7:p.Thr72Ile | |
| ENST00000399271.5:c.215C>T | ENSP00000382213.1:p.Thr72Ile | |
| NM_014208.3:c.215C>T MANE Select | NP_055023.2:p.Thr72Ile |