Linked Data
ClinVar Variation Id:
94999
dbSNP Id:
rs80193928
ExAC:
2:238249564 T / G
gnomAD v2:
2-238249564-T-G
gnomAD v3:
2-237340921-T-G
gnomAD v4:
2-237340921-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237340921T>G , CM000664.2:g.237340921T>G | GRCh38 |
| NC_000002.11:g.238249564T>G , CM000664.1:g.238249564T>G | GRCh37 |
| NC_000002.10:g.237914303T>G | NCBI36 |
| NG_008676.1:g.78287A>C , LRG_473:g.78287A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.640A>C | ||
| ENST00000353578.9:c.7377A>C | ENSP00000315873.4:p.Ala2459= | |
| ENST00000684508.1:n.262A>C | ||
| ENST00000295550.9:c.7995A>C MANE Select | ENSP00000295550.4:p.Ala2665= | |
| ENST00000295550.8:c.7995A>C | ENSP00000295550.4:p.Ala2665= | |
| ENST00000347401.7:c.6171A>C | ENSP00000315609.4:p.Ala2057= | |
| ENST00000353578.8:c.7377A>C | ENSP00000315873.4:p.Ala2459= | |
| ENST00000409809.5:c.7377A>C | ENSP00000386844.1:p.Ala2459= | |
| ENST00000472056.5:c.6174A>C | ENSP00000418285.1:p.Ala2058= | |
| ENST00000491769.1:n.4437A>C | ||
| NM_004369.3:c.7995A>C , LRG_473t1:c.7995A>C | NP_004360.2:p.Ala2665= | |
| NM_057166.4:c.6174A>C | NP_476507.3:p.Ala2058= | |
| NM_057167.3:c.7377A>C | NP_476508.2:p.Ala2459= | |
| XM_005246065.1:c.7395A>C | XP_005246122.1:p.Ala2465= | |
| XM_005246066.1:c.6774A>C | XP_005246123.1:p.Ala2258= | |
| XM_006712253.1:c.7494A>C | XP_006712316.1:p.Ala2498= | |
| XM_011510574.1:c.7992A>C | XP_011508876.1:p.Ala2664= | |
| XM_011510575.1:c.5589A>C | XP_011508877.1:p.Ala1863= | |
| XM_017003304.1:c.5589A>C | XP_016858793.1:p.Ala1863= | |
| XM_024452684.1:c.6774A>C | XP_024308452.1:p.Ala2258= | |
| NM_004369.4:c.7995A>C MANE Select | NP_004360.2:p.Ala2665= | |
| NM_057166.5:c.6174A>C | NP_476507.3:p.Ala2058= | |
| NM_057167.4:c.7377A>C | NP_476508.2:p.Ala2459= |