Linked Data
ClinVar Variation Id:
1645811
ClinVar RCV Id:
RCV002136173
dbSNP Id:
rs61750422
ExAC:
7:92129122 G / T
gnomAD v2:
7-92129122-G-T
gnomAD v4:
7-92499808-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92499808G>T , CM000669.2:g.92499808G>T | GRCh38 |
| NC_000007.13:g.92129122G>T , CM000669.1:g.92129122G>T | GRCh37 |
| NC_000007.12:g.91967058G>T | NCBI36 |
| NG_008341.1:g.33724C>A | |
| NG_008341.2:g.33724C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2614C>A MANE Select | ENSP00000248633.4:p.Arg872= | |
| ENST00000248633.8:c.2614C>A | ENSP00000248633.4:p.Arg872= | |
| ENST00000428214.5:c.2443C>A | ENSP00000394413.1:p.Arg815= | |
| ENST00000438045.5:c.1648C>A | ENSP00000410438.1:p.Arg550= | |
| ENST00000484913.5:n.2653C>A | ||
| ENST00000496420.5:n.2506C>A | ||
| NM_000466.2:c.2614C>A | NP_000457.1:p.Arg872= | |
| NM_001282677.1:c.2443C>A | NP_001269606.1:p.Arg815= | |
| NM_001282678.1:c.1990C>A | NP_001269607.1:p.Arg664= | |
| XM_005250433.3:c.865C>A | XP_005250490.1:p.Arg289= | |
| XR_242246.3:n.2710C>A | ||
| XM_017012319.2:c.865C>A | XP_016867808.1:p.Arg289= | |
| XR_001744808.2:n.1641C>A | ||
| XR_242246.5:n.2661C>A | ||
| NM_000466.3:c.2614C>A MANE Select | NP_000457.1:p.Arg872= | |
| NM_001282677.2:c.2443C>A | NP_001269606.1:p.Arg815= | |
| NM_001282678.2:c.1990C>A | NP_001269607.1:p.Arg664= |