Linked Data
ClinVar Variation Id:
836266
ClinVar RCV Id:
RCV001037348
dbSNP Id:
rs1035228561
gnomAD v2:
3-30733003-G-T
gnomAD v3:
3-30691511-G-T
gnomAD v4:
3-30691511-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30691511G>T , CM000665.2:g.30691511G>T | GRCh38 |
| NC_000003.11:g.30733003G>T , CM000665.1:g.30733003G>T | GRCh37 |
| NC_000003.10:g.30708007G>T | NCBI36 |
| NG_007490.1:g.90010G>T , LRG_779:g.90010G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1616G>T MANE Select | ENSP00000295754.5:p.Ser539Ile | |
| ENST00000672050.1:n.500G>T | ||
| ENST00000672866.1:n.3212G>T | ||
| ENST00000673203.1:n.494G>T | ||
| ENST00000295754.9:c.1616G>T | ENSP00000295754.5:p.Ser539Ile | |
| ENST00000359013.4:c.1691G>T | ENSP00000351905.4:p.Ser564Ile | |
| NM_001024847.2:c.1691G>T , LRG_779t1:c.1691G>T | NP_001020018.1:p.Ser564Ile | |
| NM_003242.5:c.1616G>T | NP_003233.4:p.Ser539Ile | |
| XM_011534043.1:c.1643G>T | XP_011532345.1:p.Ser548Ile | |
| XM_011534044.1:c.1568G>T | XP_011532346.1:p.Ser523Ile | |
| XM_011534045.1:c.1511G>T | XP_011532347.1:p.Ser504Ile | |
| XM_011534043.2:c.1643G>T | XP_011532345.1:p.Ser548Ile | |
| XM_011534045.3:c.1511G>T | XP_011532347.1:p.Ser504Ile | |
| XM_017007106.1:c.1511G>T | XP_016862595.1:p.Ser504Ile | |
| NM_003242.6:c.1616G>T MANE Select | NP_003233.4:p.Ser539Ile |