Linked Data
ClinVar Variation Id:
2519974
ClinVar RCV Id:
RCV004294913
dbSNP Id:
rs138276343
ExAC:
11:62502964 G / T
gnomAD v2:
11-62502964-G-T
gnomAD v3:
11-62735492-G-T
gnomAD v4:
11-62735492-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62735492G>T , CM000673.2:g.62735492G>T | GRCh38 |
| NC_000011.9:g.62502964G>T , CM000673.1:g.62502964G>T | GRCh37 |
| NC_000011.8:g.62259540G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316461.9:c.349G>T MANE Select | ENSP00000325266.3:p.Ala117Ser | |
| ENST00000294161.10:c.*182G>T | ENSP00000294161.6:n.*182G>T | |
| ENST00000316461.8:c.349G>T | ENSP00000325266.3:p.Ala117Ser | |
| ENST00000530625.5:c.349G>T | ENSP00000435282.1:p.Ala117Ser | |
| ENST00000532276.1:c.43G>T | ENSP00000434137.1:p.Ala15Ser | |
| ENST00000532583.1:c.349G>T | ENSP00000434340.1:p.Ala117Ser | |
| NM_173810.3:c.349G>T | NP_776171.1:p.Ala117Ser | |
| XM_005273930.2:c.349G>T | XP_005273987.1:p.Ala117Ser | |
| XM_005273931.1:c.349G>T | XP_005273988.1:p.Ala117Ser | |
| XM_011544963.1:c.403G>T | XP_011543265.1:p.Ala135Ser | |
| XR_247197.3:n.1082G>T | ||
| NM_001318812.1:c.349G>T | NP_001305741.1:p.Ala117Ser | |
| NM_001318813.1:c.349G>T | NP_001305742.1:p.Ala117Ser | |
| NM_001318814.1:c.97G>T | NP_001305743.1:p.Ala33Ser | |
| NM_001318815.1:c.97G>T | NP_001305744.1:p.Ala33Ser | |
| NM_001318816.1:c.97G>T | NP_001305745.1:p.Ala33Ser | |
| XM_024448452.1:c.748G>T | XP_024304220.1:p.Ala250Ser | |
| XR_247197.4:n.1077G>T | ||
| NM_173810.4:c.349G>T MANE Select | NP_776171.1:p.Ala117Ser | |
| NM_001318812.2:c.349G>T | NP_001305741.1:p.Ala117Ser | |
| NM_001318813.2:c.349G>T | NP_001305742.1:p.Ala117Ser | |
| NM_001318814.2:c.97G>T | NP_001305743.1:p.Ala33Ser | |
| NM_001318815.2:c.97G>T | NP_001305744.1:p.Ala33Ser | |
| NM_001318816.2:c.97G>T | NP_001305745.1:p.Ala33Ser |