Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837680G>T , CM000685.2:g.154837680G>T | GRCh38 |
| NC_000023.10:g.154065955G>T , CM000685.1:g.154065955G>T | GRCh37 |
| NC_000023.9:g.153719149G>T | NCBI36 |
| NG_011403.1:g.190044C>A | |
| NG_033065.1:g.1983C>A | |
| NG_011403.2:g.190044C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.6973C>A MANE Select | NP_000123.1:p.Leu2325Ile |
| ENST00000360256.9:c.6973C>A MANE Select | ENSP00000353393.4:p.Leu2325Ile |
| NM_000132.3:c.6973C>A | NP_000123.1:p.Leu2325Ile |
| NM_019863.2:c.568C>A | NP_063916.1:p.Leu190Ile |
| NM_019863.3:c.568C>A | NP_063916.1:p.Leu190Ile |
| ENST00000330287.10:c.568C>A | ENSP00000327895.6:p.Leu190Ile |
| ENST00000360256.8:c.6973C>A | ENSP00000353393.4:p.Leu2325Ile |
| ENST00000644698.1:c.706C>A | ENSP00000495706.1:p.Leu236Ile |
| XM_011531126.1:c.6868C>A | XP_011529428.1:p.Leu2290Ile |