Linked Data
ClinVar Variation Id:
1138711
ClinVar RCV Id:
RCV001475187
dbSNP Id:
rs534594272
ExAC:
5:78260266 G / A
gnomAD v2:
5-78260266-G-A
gnomAD v3:
5-78964443-G-A
gnomAD v4:
5-78964443-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78964443G>A , CM000667.2:g.78964443G>A | GRCh38 |
| NC_000005.9:g.78260266G>A , CM000667.1:g.78260266G>A | GRCh37 |
| NC_000005.8:g.78296022G>A | NCBI36 |
| NG_007089.1:g.27092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.663C>T MANE Select | ENSP00000264914.4:p.Ala221= | |
| ENST00000565165.2:c.663C>T | ENSP00000456339.2:p.Ala221= | |
| ENST00000264914.8:c.663C>T | ENSP00000264914.4:p.Ala221= | |
| ENST00000396151.7:c.663C>T | ENSP00000379455.3:p.Ala221= | |
| ENST00000565165.1:c.663C>T | ENSP00000456339.1:p.Ala221= | |
| NM_000046.3:c.663C>T | NP_000037.2:p.Ala221= | |
| NM_198709.2:c.663C>T | NP_942002.1:p.Ala221= | |
| XM_005248506.3:c.663C>T | XP_005248563.1:p.Ala221= | |
| XM_006714615.2:c.663C>T | XP_006714678.1:p.Ala221= | |
| XM_011543390.1:c.663C>T | XP_011541692.1:p.Ala221= | |
| XM_011543391.1:c.663C>T | XP_011541693.1:p.Ala221= | |
| XM_011543392.1:c.663C>T | XP_011541694.1:p.Ala221= | |
| XM_011543393.1:c.663C>T | XP_011541695.1:p.Ala221= | |
| NM_000046.4:c.663C>T | NP_000037.2:p.Ala221= | |
| XM_011543391.3:c.663C>T | XP_011541693.1:p.Ala221= | |
| XM_011543392.3:c.663C>T | XP_011541694.1:p.Ala221= | |
| XM_011543393.2:c.663C>T | XP_011541695.1:p.Ala221= | |
| XM_017009471.2:c.663C>T | XP_016864960.1:p.Ala221= | |
| XR_001742065.2:n.734C>T | ||
| XR_001742066.2:n.734C>T | ||
| NM_000046.5:c.663C>T MANE Select | NP_000037.2:p.Ala221= | |
| NM_198709.3:c.663C>T | NP_942002.1:p.Ala221= |