Linked Data
ClinVar Variation Id:
1101785
ClinVar RCV Id:
RCV001424881
dbSNP Id:
rs749049962
ExAC:
7:92131340 A / G
gnomAD v2:
7-92131340-A-G
gnomAD v3:
7-92502026-A-G
gnomAD v4:
7-92502026-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92502026A>G , CM000669.2:g.92502026A>G | GRCh38 |
| NC_000007.13:g.92131340A>G , CM000669.1:g.92131340A>G | GRCh37 |
| NC_000007.12:g.91969276A>G | NCBI36 |
| NG_008341.1:g.31506T>C | |
| NG_008341.2:g.31506T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2280T>C MANE Select | ENSP00000248633.4:p.Asp760= | |
| ENST00000248633.8:c.2280T>C | ENSP00000248633.4:p.Asp760= | |
| ENST00000428214.5:c.2109T>C | ENSP00000394413.1:p.Asp703= | |
| ENST00000438045.5:c.1314T>C | ENSP00000410438.1:p.Asp438= | |
| ENST00000484913.5:n.2319T>C | ||
| ENST00000496092.1:n.78T>C | ||
| ENST00000496420.5:n.1956T>C | ||
| NM_000466.2:c.2280T>C | NP_000457.1:p.Asp760= | |
| NM_001282677.1:c.2109T>C | NP_001269606.1:p.Asp703= | |
| NM_001282678.1:c.1656T>C | NP_001269607.1:p.Asp552= | |
| XM_005250433.3:c.531T>C | XP_005250490.1:p.Asp177= | |
| XR_242246.3:n.2376T>C | ||
| XM_017012319.2:c.531T>C | XP_016867808.1:p.Asp177= | |
| XR_001744808.2:n.1307T>C | ||
| XR_242246.5:n.2327T>C | ||
| NM_000466.3:c.2280T>C MANE Select | NP_000457.1:p.Asp760= | |
| NM_001282677.2:c.2109T>C | NP_001269606.1:p.Asp703= | |
| NM_001282678.2:c.1656T>C | NP_001269607.1:p.Asp552= |