dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6526401A>C , CM000674.2:g.6526401A>C | GRCh38 |
| NC_000012.11:g.6635567A>C , CM000674.1:g.6635567A>C | GRCh37 |
| NC_000012.10:g.6505828A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315579.10:c.2566+30A>C MANE Select | ENSP00000325017.5:n.2566+30A>C | |
| ENST00000315579.9:c.2566+30A>C | ENSP00000325017.5:n.2566+30A>C | |
| ENST00000382457.8:c.2182+30A>C | ENSP00000371895.4:n.2182+30A>C | |
| ENST00000539084.5:c.*2261+30A>C | ENSP00000438495.1:n.*2261+30A>C | |
| ENST00000542492.1:n.499+30A>C | ||
| NM_014865.3:c.2566+30A>C | NP_055680.3:n.2566+30A>C | |
| NM_014865.4:c.2566+30A>C MANE Select | NP_055680.3:n.2566+30A>C |