Linked Data
ClinVar Variation Id:
2399143
ClinVar RCV Id:
RCV002749559
dbSNP Id:
rs746978273
ExAC:
12:63991590 G / A
gnomAD v2:
12-63991590-G-A
gnomAD v3:
12-63597810-G-A
gnomAD v4:
12-63597810-G-A
COSMIC:
COSM160745
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63597810G>A , CM000674.2:g.63597810G>A | GRCh38 |
| NC_000012.11:g.63991590G>A , CM000674.1:g.63991590G>A | GRCh37 |
| NC_000012.10:g.62277857G>A | NCBI36 |
| NG_031909.1:g.75765C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324472.9:c.1460C>T MANE Select | ENSP00000315988.4:p.Ala487Val | |
| ENST00000306389.7:c.*851C>T | ENSP00000445878.1:n.*851C>T | |
| ENST00000324472.8:c.1460C>T | ENSP00000315988.4:p.Ala487Val | |
| ENST00000439061.6:c.241C>T | ||
| NM_173812.4:c.1460C>T | NP_776173.3:p.Ala487Val | |
| XM_006719348.2:c.1400C>T | XP_006719411.1:p.Ala467Val | |
| XM_006719350.2:c.1460C>T | XP_006719413.1:p.Ala487Val | |
| XM_006719352.1:c.1031C>T | XP_006719415.1:p.Ala344Val | |
| XM_006719353.2:c.1031C>T | XP_006719416.1:p.Ala344Val | |
| XM_006719355.2:c.1460C>T | XP_006719418.1:p.Ala487Val | |
| XM_006719356.2:c.515C>T | XP_006719419.1:p.Ala172Val | |
| XM_011538215.1:c.947C>T | XP_011536517.1:p.Ala316Val | |
| XM_011538216.1:c.1460C>T | XP_011536518.1:p.Ala487Val | |
| XM_011538217.1:c.1460C>T | XP_011536519.1:p.Ala487Val | |
| XM_011538218.1:c.449C>T | XP_011536520.1:p.Ala150Val | |
| XR_429092.2:n.1676C>T | ||
| XR_944521.1:n.1676C>T | ||
| XM_006719352.2:c.1031C>T | XP_006719415.1:p.Ala344Val | |
| XM_011538215.2:c.947C>T | XP_011536517.1:p.Ala316Val | |
| XM_011538218.3:c.449C>T | XP_011536520.1:p.Ala150Val | |
| XM_017019192.2:c.1310C>T | XP_016874681.1:p.Ala437Val | |
| XM_017019193.2:c.1157C>T | XP_016874682.1:p.Ala386Val | |
| XM_017019201.1:c.515C>T | XP_016874690.1:p.Ala172Val | |
| XM_017019203.2:c.455C>T | XP_016874692.1:p.Ala152Val | |
| XM_017019204.1:c.455C>T | XP_016874693.1:p.Ala152Val | |
| XM_024448944.1:c.1400C>T | XP_024304712.1:p.Ala467Val | |
| XM_024448945.1:c.1460C>T | XP_024304713.1:p.Ala487Val | |
| XM_024448946.1:c.1031C>T | XP_024304714.1:p.Ala344Val | |
| XM_024448947.1:c.1031C>T | XP_024304715.1:p.Ala344Val | |
| XM_024448948.1:c.1460C>T | XP_024304716.1:p.Ala487Val | |
| XM_024448949.1:c.1460C>T | XP_024304717.1:p.Ala487Val | |
| XM_024448950.1:c.1460C>T | XP_024304718.1:p.Ala487Val | |
| XM_024448951.1:c.1460C>T | XP_024304719.1:p.Ala487Val | |
| XM_024448952.1:c.1460C>T | XP_024304720.1:p.Ala487Val | |
| XM_024448953.1:c.1400C>T | XP_024304721.1:p.Ala467Val | |
| XM_024448956.1:c.1031C>T | XP_024304724.1:p.Ala344Val | |
| XR_001748666.2:n.1552C>T | ||
| XR_002957314.1:n.1612C>T | ||
| XR_002957315.1:n.1612C>T | ||
| XR_002957316.1:n.1612C>T | ||
| XR_002957317.1:n.1552C>T | ||
| XR_002957318.1:n.1552C>T | ||
| XR_002957319.1:n.1552C>T | ||
| NM_173812.5:c.1460C>T MANE Select | NP_776173.3:p.Ala487Val |