Linked Data
ClinVar Variation Id:
320087
dbSNP Id:
rs201290058
ExAC:
16:57953157 G / T
gnomAD v2:
16-57953157-G-T
gnomAD v3:
16-57919253-G-T
gnomAD v4:
16-57919253-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57919253G>T , CM000678.2:g.57919253G>T | GRCh38 |
| NC_000016.9:g.57953157G>T , CM000678.1:g.57953157G>T | GRCh37 |
| NC_000016.8:g.56510658G>T | NCBI36 |
| NG_016351.1:g.56864C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.1803C>A MANE Select | ENSP00000251102.8:p.Ser601= | |
| ENST00000251102.12:c.1803C>A | ENSP00000251102.8:p.Ser601= | |
| ENST00000564448.5:c.1785C>A | ENSP00000454633.1:p.Ser595= | |
| NM_001286130.1:c.1785C>A | NP_001273059.1:p.Ser595= | |
| NM_001297.4:c.1803C>A | NP_001288.3:p.Ser601= | |
| XM_006721134.2:c.1803C>A | XP_006721197.1:p.Ser601= | |
| XM_011522870.1:c.654C>A | XP_011521172.1:p.Ser218= | |
| XR_933629.1:n.85+1711G>T | ||
| XM_011522870.2:c.654C>A | XP_011521172.1:p.Ser218= | |
| NM_001286130.2:c.1785C>A | NP_001273059.1:p.Ser595= | |
| NM_001297.5:c.1803C>A MANE Select | NP_001288.3:p.Ser601= |