Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852806A>G , CM000674.2:g.102852806A>G | GRCh38 |
| NC_000012.11:g.103246584A>G , CM000674.1:g.103246584A>G | GRCh37 |
| NC_000012.10:g.101770714A>G | NCBI36 |
| NG_008690.1:g.69797T>C | |
| NG_008690.2:g.110605T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.842+9T>C MANE Select | ENSP00000448059.1:n.842+9T>C | |
| ENST00000307000.7:c.827+9T>C | ENSP00000303500.2:n.827+9T>C | |
| ENST00000549247.6:n.601+9T>C | ||
| ENST00000553106.5:c.842+9T>C | ENSP00000448059.1:n.842+9T>C | |
| ENST00000635477.1:c.3+9T>C | ||
| NM_000277.1:c.842+9T>C | NP_000268.1:n.842+9T>C | |
| XM_011538422.1:c.842+9T>C | XP_011536724.1:n.842+9T>C | |
| NM_000277.2:c.842+9T>C | NP_000268.1:n.842+9T>C | |
| NM_001354304.1:c.842+9T>C | NP_001341233.1:n.842+9T>C | |
| NM_000277.3:c.842+9T>C MANE Select | NP_000268.1:n.842+9T>C | |
| NM_001354304.2:c.842+9T>C | NP_001341233.1:n.842+9T>C |