ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189061561C>A , CM000664.2:g.189061561C>A | GRCh38 |
| NC_000002.11:g.189926287C>A , CM000664.1:g.189926287C>A | GRCh37 |
| NC_000002.10:g.189634532C>A | NCBI36 |
| NG_011799.1:g.123319G>T | |
| NG_011799.2:g.123319G>T | |
| NG_011799.3:g.168741G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2031+1G>T MANE Select | ENSP00000364000.3:n.2031+1G>T | |
| ENST00000374866.7:c.2031+1G>T | ENSP00000364000.3:n.2031+1G>T | |
| ENST00000470524.2:n.137+1G>T | ||
| ENST00000618828.1:c.870+1G>T | ENSP00000482184.1:n.870+1G>T | |
| NM_000393.3:c.2031+1G>T | NP_000384.2:n.2031+1G>T | |
| XM_011510573.1:c.1893+1G>T | XP_011508875.1:n.1893+1G>T | |
| NM_000393.4:c.2031+1G>T | NP_000384.2:n.2031+1G>T | |
| XM_011510573.3:c.1893+1G>T | XP_011508875.1:n.1893+1G>T | |
| NM_000393.5:c.2031+1G>T MANE Select | NP_000384.2:n.2031+1G>T |