Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42184848G>A , CM000668.2:g.42184848G>A | GRCh38 |
| NC_000006.11:g.42152586G>A , CM000668.1:g.42152586G>A | GRCh37 |
| NC_000006.10:g.42260564G>A | NCBI36 |
| NG_016216.1:g.15109C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002098.6:c.570C>T MANE Select | NP_002089.4:p.Leu190= |
| ENST00000230361.4:c.570C>T MANE Select | ENSP00000230361.3:p.Leu190= |
| NM_002098.5:c.570C>T | NP_002089.4:p.Leu190= |
| ENST00000230361.3:c.570C>T | ENSP00000230361.3:p.Leu190= |
| XM_011514540.1:c.366C>T | XP_011512842.1:p.Leu122= |