Linked Data
ClinVar Variation Id:
2108382
ClinVar RCV Id:
RCV003034150
dbSNP Id:
rs775617819
ExAC:
2:55894122 T / C
gnomAD v2:
2-55894122-T-C
gnomAD v4:
2-55666987-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55666987T>C , CM000664.2:g.55666987T>C | GRCh38 |
| NC_000002.11:g.55894122T>C , CM000664.1:g.55894122T>C | GRCh37 |
| NC_000002.10:g.55747626T>C | NCBI36 |
| NG_033012.1:g.31924A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.1176+4A>G MANE Select | ENSP00000400646.2:n.1176+4A>G | |
| ENST00000260604.8:c.*731+4A>G | ENSP00000260604.4:n.*731+4A>G | |
| ENST00000415374.5:c.1176+4A>G | ENSP00000393953.1:n.1176+4A>G | |
| ENST00000415489.1:c.250+4A>G | ||
| ENST00000447944.6:c.1176+4A>G | ENSP00000400646.2:n.1176+4A>G | |
| NM_033109.4:c.1176+4A>G | NP_149100.2:n.1176+4A>G | |
| XM_005264629.1:c.936+4A>G | XP_005264686.1:n.936+4A>G | |
| XM_011533142.1:c.1176+4A>G | XP_011531444.1:n.1176+4A>G | |
| XM_005264629.2:c.936+4A>G | XP_005264686.1:n.936+4A>G | |
| XM_017005172.1:c.936+4A>G | XP_016860661.1:n.936+4A>G | |
| XR_001739010.1:n.1206+4A>G | ||
| NM_033109.5:c.1176+4A>G MANE Select | NP_149100.2:n.1176+4A>G |