Linked Data
ClinVar Variation Id:
2786990
ClinVar RCV Id:
RCV003760025
gnomAD v4:
7-92504835-T-G
MyVariant Identifiers:
chr7:g.92134149T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504835T>G , CM000669.2:g.92504835T>G | GRCh38 |
| NC_000007.13:g.92134149T>G , CM000669.1:g.92134149T>G | GRCh37 |
| NC_000007.12:g.91972085T>G | NCBI36 |
| NG_008341.1:g.28697A>C | |
| NG_008341.2:g.28697A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1968A>C MANE Select | ENSP00000248633.4:p.Pro656= | |
| ENST00000248633.8:c.1968A>C | ENSP00000248633.4:p.Pro656= | |
| ENST00000428214.5:c.1900+1413A>C | ENSP00000394413.1:n.1900+1413A>C | |
| ENST00000438045.5:c.1002A>C | ENSP00000410438.1:p.Pro334= | |
| ENST00000484913.5:n.2007A>C | ||
| ENST00000496420.5:n.1644A>C | ||
| NM_000466.2:c.1968A>C | NP_000457.1:p.Pro656= | |
| NM_001282677.1:c.1900+1413A>C | NP_001269606.1:n.1900+1413A>C | |
| NM_001282678.1:c.1344A>C | NP_001269607.1:p.Pro448= | |
| XM_005250433.3:c.219A>C | XP_005250490.1:p.Pro73= | |
| XR_242246.3:n.2064A>C | ||
| XM_017012319.2:c.219A>C | XP_016867808.1:p.Pro73= | |
| XR_001744808.2:n.995A>C | ||
| XR_242246.5:n.2015A>C | ||
| NM_000466.3:c.1968A>C MANE Select | NP_000457.1:p.Pro656= | |
| NM_001282677.2:c.1900+1413A>C | NP_001269606.1:n.1900+1413A>C | |
| NM_001282678.2:c.1344A>C | NP_001269607.1:p.Pro448= |