Linked Data
dbSNP Id:
rs748827128
ExAC:
4:24801560 C / T
gnomAD v2:
4-24801560-C-T
gnomAD v3:
4-24799938-C-T
gnomAD v4:
4-24799938-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24799938C>T , CM000666.2:g.24799938C>T | GRCh38 |
| NC_000004.11:g.24801560C>T , CM000666.1:g.24801560C>T | GRCh37 |
| NC_000004.10:g.24410658C>T | NCBI36 |
| NG_012213.1:g.9476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.417C>T MANE Select | ENSP00000371554.3:p.His139= | |
| ENST00000382120.3:c.417C>T | ENSP00000371554.3:p.His139= | |
| NM_003102.2:c.417C>T | NP_003093.2:p.His139= | |
| XR_427488.1:n.607C>T | ||
| NM_003102.3:c.417C>T | NP_003093.2:p.His139= | |
| NM_003102.4:c.417C>T MANE Select | NP_003093.2:p.His139= |