Linked Data
ClinVar Variation Id:
2788157
ClinVar RCV Id:
RCV003671897
dbSNP Id:
rs750541785
ExAC:
7:87068969 T / C
gnomAD v2:
7-87068969-T-C
gnomAD v4:
7-87439653-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87439653T>C , CM000669.2:g.87439653T>C | GRCh38 |
| NC_000007.13:g.87068969T>C , CM000669.1:g.87068969T>C | GRCh37 |
| NC_000007.12:g.86906905T>C | NCBI36 |
| NG_007118.1:g.45780A>G | |
| NG_007118.2:g.45780A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359206.8:c.1731+14A>G | ENSP00000352135.3:n.1731+14A>G | |
| ENST00000643670.1:c.1747+14A>G | ENSP00000496629.1:n.1747+14A>G | |
| ENST00000644106.1:c.*1268+14A>G | ENSP00000493477.1:n.*1268+14A>G | |
| ENST00000649586.2:c.1731+14A>G MANE Select | ENSP00000496956.2:n.1731+14A>G | |
| ENST00000265723.8:c.1731+14A>G | ENSP00000265723.4:n.1731+14A>G | |
| ENST00000358400.7:c.1731+14A>G | ENSP00000351172.3:n.1731+14A>G | |
| ENST00000359206.7:c.1731+14A>G | ENSP00000352135.3:n.1731+14A>G | |
| ENST00000453593.5:c.1731+14A>G | ENSP00000392983.1:n.1731+14A>G | |
| NM_000443.3:c.1731+14A>G | NP_000434.1:n.1731+14A>G | |
| NM_018849.2:c.1731+14A>G | NP_061337.1:n.1731+14A>G | |
| NM_018850.2:c.1731+14A>G | NP_061338.1:n.1731+14A>G | |
| XM_011516308.1:c.1731+14A>G | XP_011514610.1:n.1731+14A>G | |
| XM_011516309.1:c.1731+14A>G | XP_011514611.1:n.1731+14A>G | |
| XM_011516310.1:c.1731+14A>G | XP_011514612.1:n.1731+14A>G | |
| XM_011516311.1:c.1731+14A>G | XP_011514613.1:n.1731+14A>G | |
| XM_011516312.1:c.1731+14A>G | XP_011514614.1:n.1731+14A>G | |
| XM_011516313.1:c.1731+14A>G | XP_011514615.1:n.1731+14A>G | |
| XM_011516314.1:c.1752+14A>G | XP_011514616.1:n.1752+14A>G | |
| XM_011516315.1:c.1071+14A>G | XP_011514617.1:n.1071+14A>G | |
| XR_927478.1:n.1827+14A>G | ||
| XM_011516308.3:c.2001+14A>G | XP_011514610.3:n.2001+14A>G | |
| XM_011516309.3:c.2001+14A>G | XP_011514611.3:n.2001+14A>G | |
| XM_011516310.3:c.2001+14A>G | XP_011514612.3:n.2001+14A>G | |
| XM_011516311.3:c.2001+14A>G | XP_011514613.3:n.2001+14A>G | |
| XM_011516312.3:c.2001+14A>G | XP_011514614.3:n.2001+14A>G | |
| XM_011516313.3:c.2001+14A>G | XP_011514615.2:n.2001+14A>G | |
| XM_011516315.3:c.1071+14A>G | XP_011514617.2:n.1071+14A>G | |
| XM_017012323.2:c.1731+14A>G | XP_016867812.1:n.1731+14A>G | |
| XR_001744809.2:n.2502+14A>G | ||
| XR_001744810.2:n.2497+14A>G | ||
| NM_000443.4:c.1731+14A>G MANE Select | NP_000434.1:n.1731+14A>G | |
| NM_018849.3:c.1731+14A>G | NP_061337.1:n.1731+14A>G | |
| NM_018850.3:c.1731+14A>G | NP_061338.1:n.1731+14A>G |