Linked Data
ClinVar Variation Id:
194094
dbSNP Id:
rs150586098
ExAC:
9:117165114 G / T
gnomAD v2:
9-117165114-G-T
gnomAD v3:
9-114402834-G-T
gnomAD v4:
9-114402834-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114402834G>T , CM000671.2:g.114402834G>T | GRCh38 |
| NC_000009.11:g.117165114G>T , CM000671.1:g.117165114G>T | GRCh37 |
| NC_000009.10:g.116204935G>T | NCBI36 |
| NG_016700.1:g.107623C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.988C>A | ENSP00000514396.1:p.Arg330Ser | |
| ENST00000362057.4:c.2644C>A MANE Select | ENSP00000354623.3:p.Arg882Ser | |
| ENST00000674036.8:c.1617C>A | ||
| ENST00000674048.1:n.2525C>A | ||
| ENST00000265134.10:c.1495C>A | ENSP00000265134.6:p.Arg499Ser | |
| ENST00000362057.3:c.2644C>A | ENSP00000354623.3:p.Arg882Ser | |
| ENST00000374059.7:c.1591C>A | ENSP00000363172.3:p.Arg531Ser | |
| NM_001083885.2:c.1495C>A | NP_001077354.2:p.Arg499Ser | |
| NM_001173425.1:c.2641C>A | NP_001166896.1:p.Arg881Ser | |
| NM_015404.3:c.2644C>A | NP_056219.3:p.Arg882Ser | |
| XM_005251897.3:c.1981C>A | XP_005251954.2:p.Arg661Ser | |
| XM_011518484.1:c.2677C>A | XP_011516786.1:p.Arg893Ser | |
| XM_011518485.1:c.2677C>A | XP_011516787.1:p.Arg893Ser | |
| XM_011518486.1:c.2674C>A | XP_011516788.1:p.Arg892Ser | |
| XM_011518487.1:c.2551C>A | XP_011516789.1:p.Arg851Ser | |
| XM_011518488.1:c.2434C>A | XP_011516790.1:p.Arg812Ser | |
| XM_011518495.1:c.1354C>A | XP_011516797.1:p.Arg452Ser | |
| NM_001346890.1:c.1591C>A | NP_001333819.1:p.Arg531Ser | |
| XM_011518486.2:c.2674C>A | XP_011516788.1:p.Arg892Ser | |
| XM_011518487.2:c.2551C>A | XP_011516789.1:p.Arg851Ser | |
| XM_011518488.2:c.2434C>A | XP_011516790.1:p.Arg812Ser | |
| NM_015404.4:c.2644C>A MANE Select | NP_056219.3:p.Arg882Ser | |
| NM_001173425.2:c.2641C>A | NP_001166896.1:p.Arg881Ser | |
| NM_001083885.3:c.1495C>A | NP_001077354.2:p.Arg499Ser |