ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874064T>A , CM000664.2:g.240874064T>A | GRCh38 |
| NC_000002.11:g.241813481T>A , CM000664.1:g.241813481T>A | GRCh37 |
| NC_000002.10:g.241462154T>A | NCBI36 |
| NG_008005.1:g.10320T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.680+2T>A MANE Select | ENSP00000302620.3:n.680+2T>A | |
| ENST00000307503.3:c.680+2T>A | ENSP00000302620.3:n.680+2T>A | |
| ENST00000476698.1:n.332+1015T>A | ||
| NM_000030.2:c.680+2T>A | NP_000021.1:n.680+2T>A | |
| NM_000030.3:c.680+2T>A MANE Select | NP_000021.1:n.680+2T>A |