dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4372398T>G , CM000674.2:g.4372398T>G | GRCh38 |
| NC_000012.11:g.4481564T>G , CM000674.1:g.4481564T>G | GRCh37 |
| NC_000012.10:g.4351825T>G | NCBI36 |
| NG_007087.1:g.12331A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237837.2:c.315+196A>C MANE Select | ENSP00000237837.1:n.315+196A>C | |
| ENST00000648100.1:c.*1967+6116T>G | ENSP00000497536.1:n.*1967+6116T>G | |
| ENST00000648269.1:n.1815+196A>C | ||
| ENST00000674624.1:c.*1204+6116T>G | ENSP00000501898.1:n.*1204+6116T>G | |
| ENST00000237837.1:c.315+196A>C | ENSP00000237837.1:n.315+196A>C | |
| NM_020638.2:c.315+196A>C | NP_065689.1:n.315+196A>C | |
| NM_020638.3:c.315+196A>C MANE Select | NP_065689.1:n.315+196A>C |