Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38253180G>C , CM000677.2:g.38253180G>C | GRCh38 |
| NC_000015.9:g.38545381G>C , CM000677.1:g.38545381G>C | GRCh37 |
| NC_000015.8:g.36332673G>C | NCBI36 |
| NG_008980.1:g.5330G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.-6G>C MANE Select | ENSP00000299084.4:n.-6G>C | |
| ENST00000299084.8:c.-6G>C | ENSP00000299084.4:n.-6G>C | |
| ENST00000561205.1:n.333G>C | ||
| NM_152594.2:c.-6G>C | NP_689807.1:n.-6G>C | |
| XM_005254202.2:c.-6G>C | XP_005254259.1:n.-6G>C | |
| XM_005254203.3:c.-53G>C | XP_005254260.1:n.-53G>C | |
| XM_005254202.3:c.-6G>C | XP_005254259.1:n.-6G>C | |
| XR_001751484.1:n.87+387C>G | ||
| NM_152594.3:c.-6G>C MANE Select | NP_689807.1:n.-6G>C |