Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541933G>T , CM000671.2:g.98541933G>T | GRCh38 |
| NC_000009.11:g.101304215G>T , CM000671.1:g.101304215G>T | GRCh37 |
| NC_000009.10:g.100344036G>T | NCBI36 |
| NG_016426.1:g.172265C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.570C>A MANE Select | ENSP00000259455.2:p.Leu190= | |
| ENST00000637410.1:n.348C>A | ||
| ENST00000637717.1:c.186C>A | ENSP00000490789.1:p.Leu62= | |
| ENST00000259455.3:c.570C>A | ENSP00000259455.2:p.Leu190= | |
| ENST00000477471.1:n.357C>A | ||
| ENST00000634227.1:n.344C>A | ||
| NM_005458.7:c.570C>A | NP_005449.5:p.Leu190= | |
| XM_017015331.2:c.276C>A | XP_016870820.1:p.Leu92= | |
| NM_005458.8:c.570C>A MANE Select | NP_005449.5:p.Leu190= |