gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.119297431T>G , CM000671.2:g.119297431T>G | GRCh38 |
| NC_000009.11:g.122059709T>G , CM000671.1:g.122059709T>G | GRCh37 |
| NC_000009.10:g.121099530T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265922.8:c.218+15707A>C MANE Select | ENSP00000265922.2:n.218+15707A>C | |
| ENST00000265922.7:c.218+15707A>C | ENSP00000265922.2:n.218+15707A>C | |
| ENST00000373964.2:c.218+15707A>C | ENSP00000363075.1:n.218+15707A>C | |
| NM_014618.2:c.218+15707A>C | NP_055433.2:n.218+15707A>C | |
| NM_014618.3:c.218+15707A>C MANE Select | NP_055433.2:n.218+15707A>C |