Linked Data
ClinVar Variation Id:
2777288
ClinVar RCV Id:
RCV003759914
dbSNP Id:
rs1379453345
gnomAD v2:
7-92151457-T-G
gnomAD v4:
7-92522143-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92522143T>G , CM000669.2:g.92522143T>G | GRCh38 |
| NC_000007.13:g.92151457T>G , CM000669.1:g.92151457T>G | GRCh37 |
| NC_000007.12:g.91989393T>G | NCBI36 |
| NG_008341.1:g.11389A>C | |
| NG_008341.2:g.11389A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.232A>C MANE Select | ENSP00000248633.4:p.Arg78= | |
| ENST00000248633.8:c.232A>C | ENSP00000248633.4:p.Arg78= | |
| ENST00000428214.5:c.232A>C | ENSP00000394413.1:p.Arg78= | |
| ENST00000438045.5:c.232A>C | ENSP00000410438.1:p.Arg78= | |
| ENST00000484913.5:n.236A>C | ||
| NM_000466.2:c.232A>C | NP_000457.1:p.Arg78= | |
| NM_001282677.1:c.232A>C | NP_001269606.1:p.Arg78= | |
| NM_001282678.1:c.-428A>C | NP_001269607.1:n.-428A>C | |
| XR_242246.3:n.328A>C | ||
| XR_242246.5:n.279A>C | ||
| NM_000466.3:c.232A>C MANE Select | NP_000457.1:p.Arg78= | |
| NM_001282677.2:c.232A>C | NP_001269606.1:p.Arg78= | |
| NM_001282678.2:c.-428A>C | NP_001269607.1:n.-428A>C |