Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.211492050T>G , CM000663.2:g.211492050T>G | GRCh38 |
| NC_000001.10:g.211665392T>G , CM000663.1:g.211665392T>G | GRCh37 |
| NC_000001.9:g.209732015T>G | NCBI36 |
| NG_013042.1:g.5868A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001164688.2:c.-294A>C MANE Select | NP_001158160.1:n.-294A>C |
| ENST00000680073.1:c.-294A>C MANE Select | ENSP00000505312.1:n.-294A>C |
| NM_001164688.1:c.-294A>C | NP_001158160.1:n.-294A>C |
| NM_183059.2:c.-297A>C | NP_898882.1:n.-297A>C |
| NM_183059.3:c.-297A>C | NP_898882.1:n.-297A>C |
| ENST00000367002.4:c.-297A>C | ENSP00000355969.4:n.-297A>C |
| ENST00000367002.5:c.-297A>C | ENSP00000355969.4:n.-297A>C |
| XM_011509479.1:c.-95-202A>C | XP_011507781.1:n.-95-202A>C |