Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838373A>G , CM000664.2:g.182838373A>G | GRCh38 |
| NC_000002.11:g.183703101A>G , CM000664.1:g.183703101A>G | GRCh37 |
| NC_000002.10:g.183411346A>G | NCBI36 |
| NG_017197.1:g.33398T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.797+36T>C MANE Select | ENSP00000295113.4:n.797+36T>C | |
| ENST00000295113.4:c.797+36T>C | ENSP00000295113.4:n.797+36T>C | |
| NM_001463.3:c.797+36T>C | NP_001454.2:n.797+36T>C | |
| NM_001463.4:c.797+36T>C MANE Select | NP_001454.2:n.797+36T>C |