Linked Data
ClinVar Variation Id:
1471296
ClinVar RCV Id:
RCV001966712
dbSNP Id:
rs1296643317
gnomAD v2:
7-92146882-G-A
gnomAD v4:
7-92517568-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517568G>A , CM000669.2:g.92517568G>A | GRCh38 |
| NC_000007.13:g.92146882G>A , CM000669.1:g.92146882G>A | GRCh37 |
| NC_000007.12:g.91984818G>A | NCBI36 |
| NG_008341.1:g.15964C>T | |
| NG_008341.2:g.15964C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.947C>T MANE Select | ENSP00000248633.4:p.Pro316Leu | |
| ENST00000248633.8:c.947C>T | ENSP00000248633.4:p.Pro316Leu | |
| ENST00000428214.5:c.947C>T | ENSP00000394413.1:p.Pro316Leu | |
| ENST00000438045.5:c.274-3601C>T | ENSP00000410438.1:n.274-3601C>T | |
| ENST00000484913.5:n.986C>T | ||
| NM_000466.2:c.947C>T | NP_000457.1:p.Pro316Leu | |
| NM_001282677.1:c.947C>T | NP_001269606.1:p.Pro316Leu | |
| NM_001282678.1:c.323C>T | NP_001269607.1:p.Pro108Leu | |
| XR_242246.3:n.1043C>T | ||
| XM_017012319.2:c.-720C>T | XP_016867808.1:n.-720C>T | |
| XR_001744808.2:n.57C>T | ||
| XR_242246.5:n.994C>T | ||
| NM_000466.3:c.947C>T MANE Select | NP_000457.1:p.Pro316Leu | |
| NM_001282677.2:c.947C>T | NP_001269606.1:p.Pro316Leu | |
| NM_001282678.2:c.323C>T | NP_001269607.1:p.Pro108Leu |