Linked Data
ClinVar Variation Id:
538111
ClinVar RCV Id:
RCV000647287
dbSNP Id:
rs777703689
ExAC:
1:78408480 G / T
gnomAD v2:
1-78408480-G-T
gnomAD v3:
1-77942795-G-T
gnomAD v4:
1-77942795-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942795G>T , CM000663.2:g.77942795G>T | GRCh38 |
| NC_000001.10:g.78408480G>T , CM000663.1:g.78408480G>T | GRCh37 |
| NC_000001.9:g.78181068G>T | NCBI36 |
| NG_016625.1:g.59281G>T , LRG_442:g.59281G>T | |
| NG_033243.2:g.41299C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1994G>T MANE Select | ENSP00000333938.7:p.Ser665Ile | |
| ENST00000330010.12:c.1802G>T | ENSP00000327363.8:p.Ser601Ile | |
| ENST00000334785.11:c.1994G>T | ENSP00000333938.7:p.Ser665Ile | |
| ENST00000342754.5:c.1693G>T | ||
| ENST00000480732.2:n.1568G>T | ||
| NM_001172309.1:c.1802G>T | NP_001165780.1:p.Ser601Ile | |
| NM_144573.3:c.1994G>T , LRG_442t1:c.1994G>T | NP_653174.3:p.Ser665Ile | |
| XM_005271322.2:c.1994G>T | XP_005271379.1:p.Ser665Ile | |
| XM_005271323.2:c.1952G>T | XP_005271380.1:p.Ser651Ile | |
| XM_005271324.3:c.1802G>T | XP_005271381.1:p.Ser601Ile | |
| XM_005271325.2:c.1772G>T | XP_005271382.1:p.Ser591Ile | |
| XM_005271326.2:c.1760G>T | XP_005271383.1:p.Ser587Ile | |
| XM_005271327.2:c.1577G>T | XP_005271384.1:p.Ser526Ile | |
| XM_005271322.4:c.1994G>T | XP_005271379.1:p.Ser665Ile | |
| XM_005271323.4:c.1952G>T | XP_005271380.1:p.Ser651Ile | |
| XM_005271324.5:c.1802G>T | XP_005271381.1:p.Ser601Ile | |
| XM_005271325.4:c.1772G>T | XP_005271382.1:p.Ser591Ile | |
| XM_005271326.4:c.1760G>T | XP_005271383.1:p.Ser587Ile | |
| XM_005271327.4:c.1577G>T | XP_005271384.1:p.Ser526Ile | |
| NM_001172309.2:c.1802G>T | NP_001165780.1:p.Ser601Ile | |
| NM_144573.4:c.1994G>T MANE Select | NP_653174.3:p.Ser665Ile |