Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38148640C>G , CM000670.2:g.38148640C>G | GRCh38 |
| NC_000008.10:g.38006158C>G , CM000670.1:g.38006158C>G | GRCh37 |
| NC_000008.9:g.38125315C>G | NCBI36 |
| NG_011827.1:g.7443G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.178+1G>C MANE Select | NP_000340.2:n.178+1G>C |
| ENST00000276449.9:c.178+1G>C MANE Select | ENSP00000276449.3:n.178+1G>C |
| NM_000349.2:c.178+1G>C | NP_000340.2:n.178+1G>C |
| ENST00000276449.8:c.178+1G>C | ENSP00000276449.3:n.178+1G>C |
| ENST00000520114.1:n.353G>C | |
| ENST00000521236.1:c.-101+1G>C | ENSP00000430030.1:n.-101+1G>C |
| ENST00000522050.1:c.114+1G>C | |
| XM_006716392.1:c.178+1G>C | XP_006716455.1:n.178+1G>C |