Linked Data
ClinVar Variation Id:
5611
ClinVar RCV Id:
RCV000005963
dbSNP Id:
rs121917817
ExAC:
5:177034446 C / A
gnomAD v2:
5-177034446-C-A
gnomAD v4:
5-177607445-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177607445C>A , CM000667.2:g.177607445C>A | GRCh38 |
| NC_000005.9:g.177034446C>A , CM000667.1:g.177034446C>A | GRCh37 |
| NC_000005.8:g.176967052C>A | NCBI36 |
| NG_015977.1:g.12328C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000029410.10:c.557C>A MANE Select | ENSP00000029410.5:p.Ala186Asp | |
| ENST00000029410.9:c.557C>A | ENSP00000029410.5:p.Ala186Asp | |
| ENST00000502420.1:n.536C>A | ||
| ENST00000505145.1:n.1655C>A | ||
| ENST00000505433.5:c.*63C>A | ENSP00000425591.1:n.*63C>A | |
| ENST00000515353.1:n.81C>A | ||
| NM_007255.2:c.557C>A | NP_009186.1:p.Ala186Asp | |
| XM_005265805.2:c.215C>A | XP_005265862.1:p.Ala72Asp | |
| XM_006714816.2:c.77C>A | XP_006714879.1:p.Ala26Asp | |
| XM_011534421.1:c.215C>A | XP_011532723.1:p.Ala72Asp | |
| XM_006714816.4:c.77C>A | XP_006714879.1:p.Ala26Asp | |
| XM_017008999.2:c.215C>A | XP_016864488.1:p.Ala72Asp | |
| NM_007255.3:c.557C>A MANE Select | NP_009186.1:p.Ala186Asp |