Linked Data
ClinVar Variation Id:
217430
ClinVar RCV Id:
RCV000201308
RCV000633316
RCV001526999
RCV001004518
RCV001376605
RCV003422106
RCV001795328
dbSNP Id:
rs756876301
ExAC:
7:92146589 C / A
gnomAD v2:
7-92146589-C-A
gnomAD v3:
7-92517275-C-A
gnomAD v4:
7-92517275-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517275C>A , CM000669.2:g.92517275C>A | GRCh38 |
| NC_000007.13:g.92146589C>A , CM000669.1:g.92146589C>A | GRCh37 |
| NC_000007.12:g.91984525C>A | NCBI36 |
| NG_008341.1:g.16257G>T | |
| NG_008341.2:g.16257G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1239+1G>T MANE Select | ENSP00000248633.4:n.1239+1G>T | |
| ENST00000248633.8:c.1239+1G>T | ENSP00000248633.4:n.1239+1G>T | |
| ENST00000422866.1:c.140+1G>T | ||
| ENST00000428214.5:c.1239+1G>T | ENSP00000394413.1:n.1239+1G>T | |
| ENST00000438045.5:c.274-3308G>T | ENSP00000410438.1:n.274-3308G>T | |
| ENST00000484913.5:n.1278+1G>T | ||
| NM_000466.2:c.1239+1G>T | NP_000457.1:n.1239+1G>T | |
| NM_001282677.1:c.1239+1G>T | NP_001269606.1:n.1239+1G>T | |
| NM_001282678.1:c.615+1G>T | NP_001269607.1:n.615+1G>T | |
| XR_242246.3:n.1335+1G>T | ||
| XM_017012319.2:c.-428+1G>T | XP_016867808.1:n.-428+1G>T | |
| XR_001744808.2:n.349+1G>T | ||
| XR_242246.5:n.1286+1G>T | ||
| NM_000466.3:c.1239+1G>T MANE Select | NP_000457.1:n.1239+1G>T | |
| NM_001282677.2:c.1239+1G>T | NP_001269606.1:n.1239+1G>T | |
| NM_001282678.2:c.615+1G>T | NP_001269607.1:n.615+1G>T |