Linked Data
ClinVar Variation Id:
2793604
ClinVar RCV Id:
RCV003741512
dbSNP Id:
rs766242198
ExAC:
2:200245224 C / T
gnomAD v2:
2-200245224-C-T
gnomAD v4:
2-199380501-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.199380501C>T , CM000664.2:g.199380501C>T | GRCh38 |
| NC_000002.11:g.200245224C>T , CM000664.1:g.200245224C>T | GRCh37 |
| NC_000002.10:g.199953469C>T | NCBI36 |
| NG_016976.1:g.95766G>A | |
| NG_016976.2:g.95766G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428695.6:c.347-31328G>A | ENSP00000388581.1:n.347-31328G>A | |
| ENST00000700191.1:c.347-31328G>A | ENSP00000514853.1:n.347-31328G>A | |
| ENST00000700193.1:c.474-14G>A | ENSP00000514854.1:n.474-14G>A | |
| ENST00000700208.1:c.346+52837G>A | ENSP00000514860.1:n.346+52837G>A | |
| ENST00000700210.1:c.128-14G>A | ||
| ENST00000417098.6:c.474-14G>A MANE Select | ENSP00000401112.1:n.474-14G>A | |
| ENST00000260926.9:c.474-14G>A | ENSP00000260926.5:n.474-14G>A | |
| ENST00000417098.5:c.474-14G>A | ENSP00000401112.1:n.474-14G>A | |
| ENST00000428695.5:c.347-31328G>A | ENSP00000388581.1:n.347-31328G>A | |
| ENST00000443023.5:c.297-14G>A | ENSP00000388764.1:n.297-14G>A | |
| ENST00000457245.5:c.474-14G>A | ENSP00000405420.1:n.474-14G>A | |
| ENST00000484124.1:n.358-14G>A | ||
| ENST00000614512.4:c.347-31328G>A | ENSP00000483287.1:n.347-31328G>A | |
| NM_001172509.1:c.474-14G>A | NP_001165980.1:n.474-14G>A | |
| NM_001172517.1:c.474-14G>A | NP_001165988.1:n.474-14G>A | |
| NM_015265.3:c.474-14G>A | NP_056080.1:n.474-14G>A | |
| XM_005246396.1:c.300-14G>A | XP_005246453.1:n.300-14G>A | |
| XM_006712372.1:c.474-14G>A | XP_006712435.1:n.474-14G>A | |
| XM_011510840.1:c.474-14G>A | XP_011509142.1:n.474-14G>A | |
| XM_005246396.3:c.300-14G>A | XP_005246453.1:n.300-14G>A | |
| XM_011510840.3:c.474-14G>A | XP_011509142.1:n.474-14G>A | |
| XM_017003656.1:c.300-14G>A | XP_016859145.1:n.300-14G>A | |
| XM_024452767.1:c.51-14G>A | XP_024308535.1:n.51-14G>A | |
| XM_024452768.1:c.51-14G>A | XP_024308536.1:n.51-14G>A | |
| NM_001172509.2:c.474-14G>A MANE Select | NP_001165980.1:n.474-14G>A | |
| NM_015265.4:c.474-14G>A | NP_056080.1:n.474-14G>A |