Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49130819G>C , CM000665.2:g.49130819G>C | GRCh38 |
| NC_000003.11:g.49168252G>C , CM000665.1:g.49168252G>C | GRCh37 |
| NC_000003.10:g.49143256G>C | NCBI36 |
| NG_008094.1:g.7348C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305544.9:c.957C>G MANE Select | ENSP00000307156.4:p.Leu319= | |
| ENST00000305544.8:c.957C>G | ENSP00000307156.4:p.Leu319= | |
| ENST00000418109.5:c.957C>G | ENSP00000388325.1:p.Leu319= | |
| NM_002292.3:c.957C>G | NP_002283.3:p.Leu319= | |
| XM_005265127.3:c.957C>G | XP_005265184.1:p.Leu319= | |
| XM_005265127.4:c.957C>G | XP_005265184.1:p.Leu319= | |
| NM_002292.4:c.957C>G MANE Select | NP_002283.3:p.Leu319= |