dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31241963A>C , CM000664.2:g.31241963A>C | GRCh38 |
| NC_000002.11:g.31464829A>C , CM000664.1:g.31464829A>C | GRCh37 |
| NC_000002.10:g.31318333A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322054.10:c.228-2311A>C MANE Select | ENSP00000327116.5:n.228-2311A>C | |
| ENST00000322054.9:c.228-2311A>C | ENSP00000327116.5:n.228-2311A>C | |
| ENST00000541626.2:c.228-2311A>C | ENSP00000440685.2:n.228-2311A>C | |
| NM_014600.2:c.228-2311A>C | NP_055415.1:n.228-2311A>C | |
| NM_014600.3:c.228-2311A>C MANE Select | NP_055415.1:n.228-2311A>C |