Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527536T>C , CM000681.2:g.7527536T>C | GRCh38 |
| NC_000019.9:g.7592422T>C , CM000681.1:g.7592422T>C | GRCh37 |
| NC_000019.8:g.7498422T>C | NCBI36 |
| NG_015806.1:g.9927T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.588T>C MANE Select | ENSP00000264079.5:p.Asp196= | |
| ENST00000264079.10:c.588T>C | ENSP00000264079.5:p.Asp196= | |
| ENST00000394321.9:n.668T>C | ||
| ENST00000598406.1:n.409T>C | ||
| ENST00000601003.1:c.572-328T>C | ENSP00000469074.1:n.572-328T>C | |
| NM_020533.2:c.588T>C | NP_065394.1:p.Asp196= | |
| NM_020533.3:c.588T>C MANE Select | NP_065394.1:p.Asp196= |