Linked Data
ClinVar Variation Id:
1568541
ClinVar RCV Id:
RCV002217122
dbSNP Id:
rs2116149390
MyVariant Identifiers:
chr7:g.92131391T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92502077T>C , CM000669.2:g.92502077T>C | GRCh38 |
| NC_000007.13:g.92131391T>C , CM000669.1:g.92131391T>C | GRCh37 |
| NC_000007.12:g.91969327T>C | NCBI36 |
| NG_008341.1:g.31455A>G | |
| NG_008341.2:g.31455A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2229A>G MANE Select | ENSP00000248633.4:p.Glu743= | |
| ENST00000248633.8:c.2229A>G | ENSP00000248633.4:p.Glu743= | |
| ENST00000428214.5:c.2058A>G | ENSP00000394413.1:p.Glu686= | |
| ENST00000438045.5:c.1263A>G | ENSP00000410438.1:p.Glu421= | |
| ENST00000484913.5:n.2268A>G | ||
| ENST00000496092.1:n.27A>G | ||
| ENST00000496420.5:n.1905A>G | ||
| NM_000466.2:c.2229A>G | NP_000457.1:p.Glu743= | |
| NM_001282677.1:c.2058A>G | NP_001269606.1:p.Glu686= | |
| NM_001282678.1:c.1605A>G | NP_001269607.1:p.Glu535= | |
| XM_005250433.3:c.480A>G | XP_005250490.1:p.Glu160= | |
| XR_242246.3:n.2325A>G | ||
| XM_017012319.2:c.480A>G | XP_016867808.1:p.Glu160= | |
| XR_001744808.2:n.1256A>G | ||
| XR_242246.5:n.2276A>G | ||
| NM_000466.3:c.2229A>G MANE Select | NP_000457.1:p.Glu743= | |
| NM_001282677.2:c.2058A>G | NP_001269606.1:p.Glu686= | |
| NM_001282678.2:c.1605A>G | NP_001269607.1:p.Glu535= |