Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179545C>A , CM000678.2:g.89179545C>A | GRCh38 |
| NC_000016.9:g.89245953C>A , CM000678.1:g.89245953C>A | GRCh37 |
| NC_000016.8:g.87773454C>A | NCBI36 |
| NG_012055.1:g.12791C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.172C>A MANE Select | ENSP00000289746.2:p.His58Asn | |
| ENST00000289746.2:c.172C>A | ENSP00000289746.2:p.His58Asn | |
| ENST00000521087.5:n.237C>A | ||
| ENST00000524089.1:n.237C>A | ||
| NM_004933.2:c.172C>A | NP_004924.1:p.His58Asn | |
| XM_011522806.1:c.172C>A | XP_011521108.1:p.His58Asn | |
| NM_004933.3:c.172C>A MANE Select | NP_004924.1:p.His58Asn |