Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122341431T>C , CM000665.2:g.122341431T>C | GRCh38 |
| NC_000003.11:g.122060278T>C , CM000665.1:g.122060278T>C | GRCh37 |
| NC_000003.10:g.123542968T>C | NCBI36 |
| NG_027995.1:g.21268T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264474.4:c.169-8T>C MANE Select | ENSP00000264474.3:n.169-8T>C | |
| ENST00000264474.3:c.169-8T>C | ENSP00000264474.3:n.169-8T>C | |
| NM_005213.3:c.169-8T>C | NP_005204.1:n.169-8T>C | |
| NM_005213.4:c.169-8T>C MANE Select | NP_005204.1:n.169-8T>C |