Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6269977G>C , CM000666.2:g.6269977G>C | GRCh38 |
| NC_000004.11:g.6271704G>C , CM000666.1:g.6271704G>C | GRCh37 |
| NC_000004.10:g.6322605G>C | NCBI36 |
| NG_011700.1:g.5128G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006005.3:c.-43G>C MANE Select | NP_005996.2:n.-43G>C |
| ENST00000226760.5:c.-43G>C MANE Select | ENSP00000226760.1:n.-43G>C |
| NM_001145853.1:c.-39G>C | NP_001139325.1:n.-39G>C |
| ENST00000503569.5:c.-39G>C | ENSP00000423337.1:n.-39G>C |
| ENST00000506362.2:c.-55G>C | ENSP00000424103.2:n.-55G>C |
| ENST00000506588.5:n.128G>C | |
| ENST00000506588.6:n.128G>C | |
| ENST00000673991.1:c.-39G>C | ENSP00000501033.1:n.-39G>C |
| ENST00000682275.1:c.-43G>C | ENSP00000507852.1:n.-43G>C |
| XM_017008586.1:c.5-7474G>C | XP_016864075.1:n.5-7474G>C |