Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74715635G>C , CM000667.2:g.74715635G>C | GRCh38 |
| NC_000005.9:g.74011460G>C , CM000667.1:g.74011460G>C | GRCh37 |
| NC_000005.8:g.74047216G>C | NCBI36 |
| NG_009770.1:g.35492G>C | |
| NG_009770.2:g.80613G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.1027G>C MANE Select | NP_000512.2:p.Val343Leu |
| ENST00000261416.12:c.1027G>C MANE Select | ENSP00000261416.7:p.Val343Leu |
| NM_000521.3:c.1027G>C | NP_000512.1:p.Val343Leu |
| NM_001292004.1:c.352G>C | NP_001278933.1:p.Val118Leu |
| NM_001292004.2:c.352G>C | NP_001278933.1:p.Val118Leu |
| ENST00000261416.11:c.1027G>C | ENSP00000261416.7:p.Val343Leu |
| ENST00000504459.5:n.224G>C | |
| ENST00000511181.5:c.352G>C | ENSP00000426285.1:p.Val118Leu |
| ENST00000513336.5:c.50G>C |