Linked Data
ClinVar Variation Id:
1909696
ClinVar RCV Id:
RCV002600396
dbSNP Id:
rs774276641
ExAC:
7:95751329 C / A
gnomAD v2:
7-95751329-C-A
gnomAD v3:
7-96122017-C-A
gnomAD v4:
7-96122017-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96122017C>A , CM000669.2:g.96122017C>A | GRCh38 |
| NC_000007.13:g.95751329C>A , CM000669.1:g.95751329C>A | GRCh37 |
| NC_000007.12:g.95589265C>A | NCBI36 |
| NG_012247.1:g.205131G>T | |
| NG_012247.2:g.205131G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1592-20G>T MANE Select | ENSP00000265631.6:n.1592-20G>T | |
| ENST00000265631.9:c.1592-20G>T | ENSP00000265631.5:n.1592-20G>T | |
| ENST00000416240.6:c.1595-20G>T | ENSP00000400101.2:n.1595-20G>T | |
| NM_001160210.1:c.1595-20G>T | NP_001153682.1:n.1595-20G>T | |
| NM_014251.2:c.1592-20G>T | NP_055066.1:n.1592-20G>T | |
| NR_027662.1:n.1667-20G>T | ||
| XM_006715831.2:c.1625-20G>T | XP_006715894.1:n.1625-20G>T | |
| XM_011515728.1:c.740-20G>T | XP_011514030.1:n.740-20G>T | |
| XM_006715831.4:c.1625-20G>T | XP_006715894.1:n.1625-20G>T | |
| XM_017011663.1:c.1583-20G>T | XP_016867152.1:n.1583-20G>T | |
| XM_017011664.2:c.740-20G>T | XP_016867153.1:n.740-20G>T | |
| XM_017011665.1:c.740-20G>T | XP_016867154.1:n.740-20G>T | |
| XR_001744525.2:n.1838-20G>T | ||
| XR_002956405.1:n.2396-20G>T | ||
| NM_014251.3:c.1592-20G>T MANE Select | NP_055066.1:n.1592-20G>T | |
| NR_027662.2:n.1618-20G>T | ||
| NM_001160210.2:c.1595-20G>T | NP_001153682.1:n.1595-20G>T |