Linked Data
ClinVar Variation Id:
7516
ClinVar RCV Id:
RCV000007946
RCV000022416
RCV000032927
RCV000078922
RCV000345695
RCV000661947
RCV000763596
RCV000791271
RCV001004322
RCV001074120
RCV001266794
RCV001376560
RCV001731280
dbSNP Id:
rs61750420
ExAC:
7:92130876 C / T
gnomAD v2:
7-92130876-C-T
gnomAD v3:
7-92501562-C-T
gnomAD v4:
7-92501562-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92501562C>T , CM000669.2:g.92501562C>T | GRCh38 |
| NC_000007.13:g.92130876C>T , CM000669.1:g.92130876C>T | GRCh37 |
| NC_000007.12:g.91968812C>T | NCBI36 |
| NG_008341.1:g.31970G>A | |
| NG_008341.2:g.31970G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2528G>A MANE Select | ENSP00000248633.4:p.Gly843Asp | |
| ENST00000248633.8:c.2528G>A | ENSP00000248633.4:p.Gly843Asp | |
| ENST00000428214.5:c.2357G>A | ENSP00000394413.1:p.Gly786Asp | |
| ENST00000438045.5:c.1562G>A | ENSP00000410438.1:p.Gly521Asp | |
| ENST00000484913.5:n.2567G>A | ||
| ENST00000496420.5:n.2420G>A | ||
| NM_000466.2:c.2528G>A | NP_000457.1:p.Gly843Asp | |
| NM_001282677.1:c.2357G>A | NP_001269606.1:p.Gly786Asp | |
| NM_001282678.1:c.1904G>A | NP_001269607.1:p.Gly635Asp | |
| XM_005250433.3:c.779G>A | XP_005250490.1:p.Gly260Asp | |
| XR_242246.3:n.2624G>A | ||
| XM_017012319.2:c.779G>A | XP_016867808.1:p.Gly260Asp | |
| XR_001744808.2:n.1555G>A | ||
| XR_242246.5:n.2575G>A | ||
| NM_000466.3:c.2528G>A MANE Select | NP_000457.1:p.Gly843Asp | |
| NM_001282677.2:c.2357G>A | NP_001269606.1:p.Gly786Asp | |
| NM_001282678.2:c.1904G>A | NP_001269607.1:p.Gly635Asp |