Linked Data
ClinVar Variation Id:
498581
dbSNP Id:
rs148488423
ExAC:
2:238274624 A / G
gnomAD v2:
2-238274624-A-G
gnomAD v3:
2-237365981-A-G
gnomAD v4:
2-237365981-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237365981A>G , CM000664.2:g.237365981A>G | GRCh38 |
| NC_000002.11:g.238274624A>G , CM000664.1:g.238274624A>G | GRCh37 |
| NC_000002.10:g.237939363A>G | NCBI36 |
| NG_008676.1:g.53227T>C , LRG_473:g.53227T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.4937T>C | ENSP00000315873.4:p.Phe1646Ser | |
| ENST00000295550.9:c.5555T>C MANE Select | ENSP00000295550.4:p.Phe1852Ser | |
| ENST00000295550.8:c.5555T>C | ENSP00000295550.4:p.Phe1852Ser | |
| ENST00000347401.7:c.3734T>C | ENSP00000315609.4:p.Phe1245Ser | |
| ENST00000353578.8:c.4937T>C | ENSP00000315873.4:p.Phe1646Ser | |
| ENST00000409809.5:c.4937T>C | ENSP00000386844.1:p.Phe1646Ser | |
| ENST00000472056.5:c.3734T>C | ENSP00000418285.1:p.Phe1245Ser | |
| NM_004369.3:c.5555T>C , LRG_473t1:c.5555T>C | NP_004360.2:p.Phe1852Ser | |
| NM_057166.4:c.3734T>C | NP_476507.3:p.Phe1245Ser | |
| NM_057167.3:c.4937T>C | NP_476508.2:p.Phe1646Ser | |
| XM_005246065.1:c.4955T>C | XP_005246122.1:p.Phe1652Ser | |
| XM_005246066.1:c.4334T>C | XP_005246123.1:p.Phe1445Ser | |
| XM_006712253.1:c.5054T>C | XP_006712316.1:p.Phe1685Ser | |
| XM_011510574.1:c.5552T>C | XP_011508876.1:p.Phe1851Ser | |
| XM_011510575.1:c.3149T>C | XP_011508877.1:p.Phe1050Ser | |
| XM_017003304.1:c.3149T>C | XP_016858793.1:p.Phe1050Ser | |
| XM_024452684.1:c.4334T>C | XP_024308452.1:p.Phe1445Ser | |
| NM_004369.4:c.5555T>C MANE Select | NP_004360.2:p.Phe1852Ser | |
| NM_057166.5:c.3734T>C | NP_476507.3:p.Phe1245Ser | |
| NM_057167.4:c.4937T>C | NP_476508.2:p.Phe1646Ser |