dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7608756G>C , CM000679.2:g.7608756G>C | GRCh38 |
| NC_000017.10:g.7512074G>C , CM000679.1:g.7512074G>C | GRCh37 |
| NC_000017.9:g.7452799G>C | NCBI36 |
| NG_028105.1:g.11142C>G , LRG_285:g.11142C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704984.1:c.301-2607C>G | ENSP00000516064.1:n.301-2607C>G | |
| ENST00000250113.12:c.82-2607C>G MANE Select | ENSP00000250113.7:n.82-2607C>G | |
| ENST00000250113.11:c.82-2607C>G | ENSP00000250113.7:n.82-2607C>G | |
| ENST00000571597.1:c.-129-2607C>G | ENSP00000459230.1:n.-129-2607C>G | |
| NM_004860.3:c.82-2607C>G , LRG_285t1:c.82-2607C>G | NP_004851.2:n.82-2607C>G | |
| XR_243572.1:n.132-2607C>G | ||
| XR_243572.2:n.132-2607C>G | ||
| NM_004860.4:c.82-2607C>G MANE Select | NP_004851.2:n.82-2607C>G |