Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904060T>C , CM000685.2:g.154904060T>C | GRCh38 |
| NC_000023.10:g.154132335T>C , CM000685.1:g.154132335T>C | GRCh37 |
| NC_000023.9:g.153785529T>C | NCBI36 |
| NG_011403.1:g.123664A>G | |
| NG_011403.2:g.123664A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5844A>G MANE Select | ENSP00000353393.4:p.Leu1948= | |
| ENST00000360256.8:c.5844A>G | ENSP00000353393.4:p.Leu1948= | |
| NM_000132.3:c.5844A>G | NP_000123.1:p.Leu1948= | |
| XM_011531126.1:c.5739A>G | XP_011529428.1:p.Leu1913= | |
| NM_000132.4:c.5844A>G MANE Select | NP_000123.1:p.Leu1948= |