Linked Data
ClinVar Variation Id:
1144614
ClinVar RCV Id:
RCV001483153
dbSNP Id:
rs575737926
ExAC:
7:92148357 A / G
gnomAD v2:
7-92148357-A-G
gnomAD v3:
7-92519043-A-G
gnomAD v4:
7-92519043-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92519043A>G , CM000669.2:g.92519043A>G | GRCh38 |
| NC_000007.13:g.92148357A>G , CM000669.1:g.92148357A>G | GRCh37 |
| NC_000007.12:g.91986293A>G | NCBI36 |
| NG_008341.1:g.14489T>C | |
| NG_008341.2:g.14489T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.309T>C MANE Select | ENSP00000248633.4:p.Cys103= | |
| ENST00000248633.8:c.309T>C | ENSP00000248633.4:p.Cys103= | |
| ENST00000428214.5:c.309T>C | ENSP00000394413.1:p.Cys103= | |
| ENST00000438045.5:c.273+3059T>C | ENSP00000410438.1:n.273+3059T>C | |
| ENST00000484913.5:n.313T>C | ||
| NM_000466.2:c.309T>C | NP_000457.1:p.Cys103= | |
| NM_001282677.1:c.309T>C | NP_001269606.1:p.Cys103= | |
| NM_001282678.1:c.-351T>C | NP_001269607.1:n.-351T>C | |
| XR_242246.3:n.405T>C | ||
| XR_242246.5:n.356T>C | ||
| NM_000466.3:c.309T>C MANE Select | NP_000457.1:p.Cys103= | |
| NM_001282677.2:c.309T>C | NP_001269606.1:p.Cys103= | |
| NM_001282678.2:c.-351T>C | NP_001269607.1:n.-351T>C |