Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527740G>T , CM000681.2:g.7527740G>T | GRCh38 |
| NC_000019.9:g.7592626G>T , CM000681.1:g.7592626G>T | GRCh37 |
| NC_000019.8:g.7498626G>T | NCBI36 |
| NG_015806.1:g.10131G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.680+112G>T MANE Select | ENSP00000264079.5:n.680+112G>T | |
| ENST00000264079.10:c.680+112G>T | ENSP00000264079.5:n.680+112G>T | |
| ENST00000394321.9:n.872G>T | ||
| ENST00000598406.1:n.613G>T | ||
| ENST00000601003.1:c.572-124G>T | ENSP00000469074.1:n.572-124G>T | |
| NM_020533.2:c.680+112G>T | NP_065394.1:n.680+112G>T | |
| NM_020533.3:c.680+112G>T MANE Select | NP_065394.1:n.680+112G>T |