Linked Data
ClinVar Variation Id:
3050752
ClinVar RCV Id:
RCV003944724
dbSNP Id:
rs1196374898
gnomAD v2:
6-31540797-T-C
gnomAD v3:
6-31573020-T-C
gnomAD v4:
6-31573020-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31573020T>C , CM000668.2:g.31573020T>C | GRCh38 |
| NC_000006.11:g.31540797T>C , CM000668.1:g.31540797T>C | GRCh37 |
| NC_000006.10:g.31648776T>C | NCBI36 |
| NG_007462.1:g.2448T>C | |
| NG_012010.1:g.5922T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000418386.3:c.192T>C MANE Select | ENSP00000413450.2:p.Ala64= | |
| ENST00000418386.2:c.192T>C | ENSP00000413450.2:p.Ala64= | |
| ENST00000454783.5:c.192T>C | ENSP00000403495.1:p.Ala64= | |
| ENST00000471842.1:n.440T>C | ||
| ENST00000489638.5:n.320T>C | ||
| NM_000595.3:c.192T>C | NP_000586.2:p.Ala64= | |
| NM_001159740.2:c.192T>C | NP_001153212.1:p.Ala64= | |
| XM_011514614.1:c.192T>C | XP_011512916.1:p.Ala64= | |
| XM_011514615.1:c.192T>C | XP_011512917.1:p.Ala64= | |
| XM_011514616.1:c.192T>C | XP_011512918.1:p.Ala64= | |
| XM_011514617.1:c.192T>C | XP_011512919.1:p.Ala64= | |
| XM_011514618.1:c.192T>C | XP_011512920.1:p.Ala64= | |
| XM_011514615.2:c.192T>C | XP_011512917.1:p.Ala64= | |
| XM_011514616.2:c.192T>C | XP_011512918.1:p.Ala64= | |
| XM_011514617.2:c.192T>C | XP_011512919.1:p.Ala64= | |
| NM_000595.4:c.192T>C MANE Select | NP_000586.2:p.Ala64= |