Linked Data
ClinVar Variation Id:
2197891
ClinVar RCV Id:
RCV002640277
dbSNP Id:
rs916124567
gnomAD v2:
3-53217588-A-C
gnomAD v3:
3-53183572-A-C
gnomAD v4:
3-53183572-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53183572A>C , CM000665.2:g.53183572A>C | GRCh38 |
| NC_000003.11:g.53217588A>C , CM000665.1:g.53217588A>C | GRCh37 |
| NC_000003.10:g.53192628A>C | NCBI36 |
| NG_033864.1:g.27366A>C | |
| NG_033864.2:g.32564A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697588.1:c.778A>C | ENSP00000513355.1:p.Lys260Gln | |
| ENST00000697589.1:n.782A>C | ||
| ENST00000330452.8:c.778A>C MANE Select | ENSP00000331602.3:p.Lys260Gln | |
| ENST00000650739.1:c.778A>C | ENSP00000498623.1:p.Lys260Gln | |
| ENST00000650940.1:c.778A>C | ENSP00000499184.1:p.Lys260Gln | |
| ENST00000651505.1:c.519A>C | ||
| ENST00000652449.1:c.778A>C | ENSP00000498400.1:p.Lys260Gln | |
| ENST00000654719.1:c.778A>C | ENSP00000499558.1:p.Lys260Gln | |
| ENST00000330452.7:c.778A>C | ENSP00000331602.3:p.Lys260Gln | |
| ENST00000394729.6:c.778A>C | ENSP00000378217.2:p.Lys260Gln | |
| ENST00000464818.1:c.572-1302A>C | ENSP00000419629.1:n.572-1302A>C | |
| NM_001316327.1:c.778A>C | NP_001303256.1:p.Lys260Gln | |
| NM_006254.3:c.778A>C | NP_006245.2:p.Lys260Gln | |
| NM_212539.1:c.778A>C | NP_997704.1:p.Lys260Gln | |
| XM_006713257.2:c.826A>C | XP_006713320.1:p.Lys276Gln | |
| XM_006713259.2:c.778A>C | XP_006713322.1:p.Lys260Gln | |
| XR_940474.1:n.797A>C | ||
| NM_001354676.1:c.835A>C | NP_001341605.1:p.Lys279Gln | |
| NM_001354678.1:c.826A>C | NP_001341607.1:p.Lys276Gln | |
| NM_001354679.1:c.778A>C | NP_001341608.1:p.Lys260Gln | |
| NM_001354680.1:c.778A>C | NP_001341609.1:p.Lys260Gln | |
| XR_002959550.1:n.850A>C | ||
| NM_006254.4:c.778A>C MANE Select | NP_006245.2:p.Lys260Gln | |
| NM_001316327.2:c.778A>C | NP_001303256.1:p.Lys260Gln | |
| NM_001354676.2:c.835A>C | NP_001341605.1:p.Lys279Gln | |
| NM_001354678.2:c.826A>C | NP_001341607.1:p.Lys276Gln | |
| NM_001354679.2:c.778A>C | NP_001341608.1:p.Lys260Gln | |
| NM_001354680.2:c.778A>C | NP_001341609.1:p.Lys260Gln | |
| NM_212539.2:c.778A>C | NP_997704.1:p.Lys260Gln |