Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62613703T>C , CM000673.2:g.62613703T>C | GRCh38 |
| NC_000011.9:g.62381175T>C , CM000673.1:g.62381175T>C | GRCh37 |
| NC_000011.8:g.62137751T>C | NCBI36 |
| NG_009845.1:g.5963T>C | |
| NG_031863.1:g.13473A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000327.4:c.422T>C MANE Select | NP_000318.2:p.Leu141Ser |
| ENST00000278833.4:c.422T>C MANE Select | ENSP00000278833.3:p.Leu141Ser |
| NM_000327.3:c.422T>C | NP_000318.1:p.Leu141Ser |
| ENST00000278833.3:c.422T>C | ENSP00000278833.3:p.Leu141Ser |
| ENST00000525801.1:c.-38-555T>C | ENSP00000433566.1:n.-38-555T>C |
| ENST00000525947.1:c.-111T>C | ENSP00000432983.1:n.-111T>C |
| ENST00000534093.5:c.-38-555T>C | ENSP00000432151.1:n.-38-555T>C |