Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192042C= , CM000681.2:g.15192042C= | GRCh38 |
| NC_000019.9:g.15302853C= , CM000681.1:g.15302853C= | GRCh37 |
| NC_000019.8:g.15163853C= | NCBI36 |
| NG_009819.1:g.13940G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.597G= MANE Select | ENSP00000263388.1:p.Val199= | |
| ENST00000263388.6:c.597G= | ENSP00000263388.1:p.Val199= | |
| ENST00000601011.1:c.594G= | ENSP00000473138.1:p.Val198= | |
| NM_000435.2:c.597G= | NP_000426.2:p.Val199= | |
| XM_005259924.3:c.597G= | XP_005259981.1:p.Val199= | |
| XM_005259924.4:c.597G= | XP_005259981.1:p.Val199= | |
| NM_000435.3:c.597G= MANE Select | NP_000426.2:p.Val199= |