Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.173019356A>G , CM000665.2:g.173019356A>G | GRCh38 |
| NC_000003.11:g.172737146A>G , CM000665.1:g.172737146A>G | GRCh37 |
| NC_000003.10:g.174219840A>G | NCBI36 |
| NG_021422.1:g.126913T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351008.4:c.848+130T>C MANE Select | ENSP00000341765.3:n.848+130T>C | |
| ENST00000351008.3:c.848+130T>C | ENSP00000341765.3:n.848+130T>C | |
| NM_031955.5:c.848+130T>C | NP_114161.3:n.848+130T>C | |
| XM_006713778.2:c.848+130T>C | XP_006713841.1:n.848+130T>C | |
| XM_011513222.1:c.848+130T>C | XP_011511524.1:n.848+130T>C | |
| XM_006713778.3:c.848+130T>C | XP_006713841.1:n.848+130T>C | |
| XM_017007308.2:c.848+130T>C | XP_016862797.1:n.848+130T>C | |
| NM_031955.6:c.848+130T>C MANE Select | NP_114161.3:n.848+130T>C |