Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866768A>C , CM000679.2:g.40866768A>C | GRCh38 |
| NC_000017.10:g.39023020A>C , CM000679.1:g.39023020A>C | GRCh37 |
| NC_000017.9:g.36276546A>C | NCBI36 |
| NG_008077.1:g.5443T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000223.4:c.419T>G MANE Select | NP_000214.1:p.Leu140Arg |
| ENST00000251643.5:c.419T>G MANE Select | ENSP00000251643.4:p.Leu140Arg |
| NM_000223.3:c.419T>G | NP_000214.1:p.Leu140Arg |
| ENST00000251643.4:c.419T>G | ENSP00000251643.4:p.Leu140Arg |
| ENST00000647902.1:c.311T>G | ENSP00000497770.1:p.Leu104Arg |
| XR_934754.1:n.1500+15908A>C | |
| XR_934754.2:n.2008+15908A>C |