Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408202G>C , CM000671.2:g.134408202G>C | GRCh38 |
| NC_000009.11:g.137300048G>C , CM000671.1:g.137300048G>C | GRCh37 |
| NC_000009.10:g.136439869G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.333G>C MANE Select | ENSP00000419692.1:p.Leu111= | |
| ENST00000672570.1:c.252G>C | ENSP00000500402.1:p.Leu84= | |
| ENST00000356384.4:n.743G>C | ||
| ENST00000481739.1:c.333G>C | ENSP00000419692.1:p.Leu111= | |
| NM_001291920.1:c.252G>C | NP_001278849.1:p.Leu84= | |
| NM_001291921.1:c.42G>C | NP_001278850.1:p.Leu14= | |
| NM_002957.5:c.333G>C | NP_002948.1:p.Leu111= | |
| NM_002957.6:c.333G>C MANE Select | NP_002948.1:p.Leu111= | |
| NM_001291921.2:c.42G>C | NP_001278850.1:p.Leu14= | |
| NM_001291920.2:c.252G>C | NP_001278849.1:p.Leu84= |