Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527145C>T , CM000681.2:g.7527145C>T | GRCh38 |
| NC_000019.9:g.7592031C>T , CM000681.1:g.7592031C>T | GRCh37 |
| NC_000019.8:g.7498031C>T | NCBI36 |
| NG_015806.1:g.9536C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.571+219C>T MANE Select | ENSP00000264079.5:n.571+219C>T | |
| ENST00000264079.10:c.571+219C>T | ENSP00000264079.5:n.571+219C>T | |
| ENST00000394321.9:n.651+219C>T | ||
| ENST00000596008.1:n.752C>T | ||
| ENST00000598406.1:n.392+219C>T | ||
| ENST00000601003.1:c.571+219C>T | ENSP00000469074.1:n.571+219C>T | |
| NM_020533.2:c.571+219C>T | NP_065394.1:n.571+219C>T | |
| NM_020533.3:c.571+219C>T MANE Select | NP_065394.1:n.571+219C>T |