Linked Data
dbSNP Id:
rs749829755
ExAC:
4:55991411 G / T
gnomAD v2:
4-55991411-G-T
gnomAD v3:
4-55125244-G-T
gnomAD v4:
4-55125244-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125244G>T , CM000666.2:g.55125244G>T | GRCh38 |
| NC_000004.11:g.55991411G>T , CM000666.1:g.55991411G>T | GRCh37 |
| NC_000004.10:g.55686168G>T | NCBI36 |
| NG_012004.1:g.5352C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.50C>A MANE Select | ENSP00000263923.4:p.Thr17Asn | |
| ENST00000263923.4:c.50C>A | ENSP00000263923.4:p.Thr17Asn | |
| ENST00000512566.1:n.50C>A | ||
| NM_002253.2:c.50C>A | NP_002244.1:p.Thr17Asn | |
| NM_002253.3:c.50C>A | NP_002244.1:p.Thr17Asn | |
| NM_002253.4:c.50C>A MANE Select | NP_002244.1:p.Thr17Asn |