Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48891978A>G , CM000665.2:g.48891978A>G | GRCh38 |
| NC_000003.11:g.48929411A>G , CM000665.1:g.48929411A>G | GRCh37 |
| NC_000003.10:g.48904415A>G | NCBI36 |
| NG_008171.1:g.11919T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000387.6:c.198+2T>C MANE Select | NP_000378.1:n.198+2T>C |
| ENST00000319017.5:c.198+2T>C MANE Select | ENSP00000326305.4:n.198+2T>C |
| NM_000387.5:c.198+2T>C | NP_000378.1:n.198+2T>C |
| ENST00000319017.4:c.198+2T>C | ENSP00000326305.4:n.198+2T>C |
| ENST00000430379.5:c.198+2T>C | ENSP00000388986.1:n.198+2T>C |
| ENST00000440964.1:c.*28+2T>C | ENSP00000388563.1:n.*28+2T>C |
| XM_006713327.1:c.198+2T>C | XP_006713390.1:n.198+2T>C |