Linked Data
ClinVar Variation Id:
2941
dbSNP Id:
rs1021737
ExAC:
1:70904800 G / T
gnomAD v2:
1-70904800-G-T
gnomAD v3:
1-70439117-G-T
gnomAD v4:
1-70439117-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.70439117G>T , CM000663.2:g.70439117G>T | GRCh38 |
| NC_000001.10:g.70904800G>T , CM000663.1:g.70904800G>T | GRCh37 |
| NC_000001.9:g.70677388G>T | NCBI36 |
| NG_008041.1:g.32846G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370938.8:c.1208G>T MANE Select | ENSP00000359976.3:p.Ser403Ile | |
| ENST00000346806.2:c.1076G>T | ENSP00000311554.2:p.Ser359Ile | |
| ENST00000370938.7:c.1208G>T | ENSP00000359976.3:p.Ser403Ile | |
| ENST00000411986.6:c.1112G>T | ENSP00000413407.2:p.Ser371Ile | |
| ENST00000482383.1:n.483G>T | ||
| NM_001190463.1:c.1112G>T | NP_001177392.1:p.Ser371Ile | |
| NM_001902.5:c.1208G>T | NP_001893.2:p.Ser403Ile | |
| NM_153742.4:c.1076G>T | NP_714964.2:p.Ser359Ile | |
| XM_005270509.2:c.881G>T | XP_005270566.1:p.Ser294Ile | |
| XM_011540787.1:c.638G>T | XP_011539089.1:p.Ser213Ile | |
| XM_005270509.3:c.881G>T | XP_005270566.1:p.Ser294Ile | |
| XM_017000416.2:c.638G>T | XP_016855905.1:p.Ser213Ile | |
| NM_001902.6:c.1208G>T MANE Select | NP_001893.2:p.Ser403Ile | |
| NM_001190463.2:c.1112G>T | NP_001177392.1:p.Ser371Ile | |
| NM_153742.5:c.1076G>T | NP_714964.2:p.Ser359Ile |