Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.79120891G>C , CM000664.2:g.79120891G>C | GRCh38 |
| NC_000002.11:g.79348017G>C , CM000664.1:g.79348017G>C | GRCh37 |
| NC_000002.10:g.79201525G>C | NCBI36 |
| NG_023271.1:g.5434G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002909.5:c.30G>C MANE Select | NP_002900.2:p.Leu10= |
| ENST00000233735.2:c.30G>C MANE Select | ENSP00000233735.1:p.Leu10= |
| NM_002909.4:c.30G>C | NP_002900.2:p.Leu10= |
| ENST00000233735.1:c.30G>C | ENSP00000233735.1:p.Leu10= |
| ENST00000461579.1:n.402G>C | |
| ENST00000485184.1:n.57G>C | |
| ENST00000488524.1:n.229G>C |