Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.5464305T>C , CM000667.2:g.5464305T>C | GRCh38 |
| NC_000005.9:g.5464418T>C , CM000667.1:g.5464418T>C | GRCh37 |
| NC_000005.8:g.5517418T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296564.9:c.4971T>C MANE Select | ENSP00000296564.7:p.Ser1657= | |
| ENST00000296564.8:c.4971T>C | ENSP00000296564.7:p.Ser1657= | |
| NM_015325.2:c.4971T>C | NP_056140.1:p.Ser1657= | |
| XM_011513999.1:c.4971T>C | XP_011512301.1:p.Ser1657= | |
| XR_925602.1:n.5214T>C | ||
| XM_011513999.2:c.4971T>C | XP_011512301.1:p.Ser1657= | |
| XM_017009285.2:c.4161T>C | XP_016864774.1:p.Ser1387= | |
| XR_001742051.1:n.5214T>C | ||
| NM_015325.3:c.4971T>C MANE Select | NP_056140.1:p.Ser1657= |