Linked Data
ClinVar Variation Id:
2300929
ClinVar RCV Id:
RCV002850456
dbSNP Id:
rs1193372267
gnomAD v2:
3-119132842-G-T
gnomAD v3:
3-119413995-G-T
gnomAD v4:
3-119413995-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119413995G>T , CM000665.2:g.119413995G>T | GRCh38 |
| NC_000003.11:g.119132842G>T , CM000665.1:g.119132842G>T | GRCh37 |
| NC_000003.10:g.120615532G>T | NCBI36 |
| NG_007665.2:g.124623G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2066G>T MANE Select | ENSP00000264245.4:p.Ser689Ile | |
| ENST00000264245.8:c.2066G>T | ENSP00000264245.4:p.Ser689Ile | |
| NM_020754.3:c.2066G>T | NP_065805.2:p.Ser689Ile | |
| XM_005247671.3:c.1973G>T | XP_005247728.1:p.Ser658Ile | |
| XM_006713714.2:c.2006G>T | XP_006713777.1:p.Ser669Ile | |
| XM_006713714.3:c.2006G>T | XP_006713777.1:p.Ser669Ile | |
| XM_017006955.1:c.1574G>T | XP_016862444.1:p.Ser525Ile | |
| NM_020754.4:c.2066G>T MANE Select | NP_065805.2:p.Ser689Ile |