Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028217A>G , CM000666.2:g.52028217A>G | GRCh38 |
| NC_000004.11:g.52894383A>G , CM000666.1:g.52894383A>G | GRCh37 |
| NC_000004.10:g.52589140A>G | NCBI36 |
| NG_008891.1:g.15103T>C , LRG_204:g.15103T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.622-118T>C MANE Select | NP_000223.1:n.622-118T>C |
| ENST00000381431.10:c.622-118T>C MANE Select | ENSP00000370839.6:n.622-118T>C |
| NM_000232.4:c.622-118T>C , LRG_204t1:c.622-118T>C | NP_000223.1:n.622-118T>C |
| ENST00000381431.9:c.622-118T>C | ENSP00000370839.5:n.622-118T>C |
| XM_006714049.2:c.325-118T>C | XP_006714112.1:n.325-118T>C |
| XM_011534403.1:c.412-118T>C | XP_011532705.1:n.412-118T>C |
| XM_011534404.1:c.325-118T>C | XP_011532706.1:n.325-118T>C |