Linked Data
ClinVar Variation Id:
417291
dbSNP Id:
rs202038162
ExAC:
3:52437853 T / C
gnomAD v2:
3-52437853-T-C
gnomAD v3:
3-52403837-T-C
gnomAD v4:
3-52403837-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403837T>C , CM000665.2:g.52403837T>C | GRCh38 |
| NC_000003.11:g.52437853T>C , CM000665.1:g.52437853T>C | GRCh37 |
| NC_000003.10:g.52412893T>C | NCBI36 |
| NG_031859.1:g.11157A>G , LRG_529:g.11157A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1308A>G MANE Select | ENSP00000417132.1:p.Gln436= | |
| ENST00000296288.9:c.1254A>G | ENSP00000296288.5:p.Gln418= | |
| ENST00000460680.5:c.1308A>G | ENSP00000417132.1:p.Gln436= | |
| ENST00000469613.5:c.83A>G | ||
| ENST00000490804.1:n.736A>G | ||
| NM_004656.3:c.1308A>G | NP_004647.1:p.Gln436= | |
| XM_011534149.1:c.1308A>G | XP_011532451.1:p.Gln436= | |
| XM_011534150.1:c.1308A>G | XP_011532452.1:p.Gln436= | |
| XM_011534151.1:c.1254A>G | XP_011532453.1:p.Gln418= | |
| XM_011534152.1:c.1308A>G | XP_011532454.1:p.Gln436= | |
| XM_011534149.3:c.1308A>G | XP_011532451.1:p.Gln436= | |
| XM_011534150.3:c.1308A>G | XP_011532452.1:p.Gln436= | |
| XM_011534151.3:c.1254A>G | XP_011532453.1:p.Gln418= | |
| XM_011534152.2:c.1308A>G | XP_011532454.1:p.Gln436= | |
| XM_017007303.2:c.1254A>G | XP_016862792.1:p.Gln418= | |
| NM_004656.4:c.1308A>G MANE Select | NP_004647.1:p.Gln436= |