dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13148884C>G , CM000665.2:g.13148884C>G | GRCh38 |
| NC_000003.11:g.13190384C>G , CM000665.1:g.13190384C>G | GRCh37 |
| NC_000003.10:g.13165384C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648114.1:c.302+15220G>C | ENSP00000497029.1:n.302+15220G>C | |
| XM_011534304.1:c.302+15220G>C | XP_011532606.1:n.302+15220G>C | |
| XM_011534309.1:c.41+15122G>C | XP_011532611.1:n.41+15122G>C | |
| XM_011534310.1:c.302+15220G>C | XP_011532612.1:n.302+15220G>C | |
| NM_001376938.2:c.302+15220G>C | NP_001363867.1:n.302+15220G>C |