Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144097141G>C , CM000670.2:g.144097141G>C | GRCh38 |
| NC_000008.10:g.145152044G>C , CM000670.1:g.145152044G>C | GRCh37 |
| NC_000008.9:g.145224032G>C | NCBI36 |
| NG_033872.1:g.7107G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318911.5:c.873+7G>C MANE Select | ENSP00000317159.4:n.873+7G>C | |
| ENST00000318911.4:c.873+7G>C | ENSP00000317159.4:n.873+7G>C | |
| ENST00000525122.1:n.508G>C | ||
| ENST00000533444.1:n.1538+7G>C | ||
| NM_001916.4:c.873+7G>C | NP_001907.2:n.873+7G>C | |
| XM_017013102.1:c.703G>C | XP_016868591.1:p.Gly235Arg | |
| XM_024447072.1:c.696+7G>C | XP_024302840.1:n.696+7G>C | |
| NM_001916.5:c.873+7G>C MANE Select | NP_001907.3:n.873+7G>C |