Linked Data
dbSNP Id:
rs753763451
ExAC:
2:189927658 C / G
gnomAD v2:
2-189927658-C-G
gnomAD v4:
2-189062932-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062932C>G , CM000664.2:g.189062932C>G | GRCh38 |
| NC_000002.11:g.189927658C>G , CM000664.1:g.189927658C>G | GRCh37 |
| NC_000002.10:g.189635903C>G | NCBI36 |
| NG_011799.1:g.121948G>C | |
| NG_011799.2:g.121948G>C | |
| NG_011799.3:g.167370G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1924-14G>C MANE Select | ENSP00000364000.3:n.1924-14G>C | |
| ENST00000374866.7:c.1924-14G>C | ENSP00000364000.3:n.1924-14G>C | |
| ENST00000470524.2:n.30-14G>C | ||
| ENST00000618828.1:c.763-14G>C | ENSP00000482184.1:n.763-14G>C | |
| NM_000393.3:c.1924-14G>C | NP_000384.2:n.1924-14G>C | |
| XM_011510573.1:c.1786-14G>C | XP_011508875.1:n.1786-14G>C | |
| NM_000393.4:c.1924-14G>C | NP_000384.2:n.1924-14G>C | |
| XM_011510573.3:c.1786-14G>C | XP_011508875.1:n.1786-14G>C | |
| NM_000393.5:c.1924-14G>C MANE Select | NP_000384.2:n.1924-14G>C |