Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51350098A>G , CM000681.2:g.51350098A>G | GRCh38 |
| NC_000019.9:g.51853352A>G , CM000681.1:g.51853352A>G | GRCh37 |
| NC_000019.8:g.56545164A>G | NCBI36 |
| NG_007115.1:g.21321T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001985.3:c.438+231T>C MANE Select | NP_001976.1:n.438+231T>C |
| ENST00000309244.9:c.438+231T>C MANE Select | ENSP00000311930.3:n.438+231T>C |
| NM_001014763.1:c.711+231T>C | NP_001014763.1:n.711+231T>C |
| NM_001985.2:c.438+231T>C | NP_001976.1:n.438+231T>C |
| ENST00000309244.8:c.438+231T>C | ENSP00000311930.3:n.438+231T>C |
| ENST00000354232.8:c.711+231T>C | ENSP00000346173.3:n.711+231T>C |
| ENST00000596253.1:c.279+231T>C | ENSP00000469628.1:n.279+231T>C |
| XM_024451418.1:c.327+231T>C | XP_024307186.1:n.327+231T>C |