Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48858641A>G , CM000665.2:g.48858641A>G | GRCh38 |
| NC_000003.11:g.48896074A>G , CM000665.1:g.48896074A>G | GRCh37 |
| NC_000003.10:g.48871078A>G | NCBI36 |
| NG_008171.1:g.45256T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000387.6:c.719-10T>C MANE Select | NP_000378.1:n.719-10T>C |
| ENST00000319017.5:c.719-10T>C MANE Select | ENSP00000326305.4:n.719-10T>C |
| NM_000387.5:c.719-10T>C | NP_000378.1:n.719-10T>C |
| ENST00000319017.4:c.719-10T>C | ENSP00000326305.4:n.719-10T>C |
| ENST00000430379.5:c.500-10T>C | ENSP00000388986.1:n.500-10T>C |
| ENST00000440964.1:c.*549-10T>C | ENSP00000388563.1:n.*549-10T>C |
| ENST00000479050.1:n.28T>C | |
| XM_006713327.1:c.536-869T>C | XP_006713390.1:n.536-869T>C |