Linked Data
ClinVar Variation Id:
164199
dbSNP Id:
rs145522874
ExAC:
19:50789904 G / T
gnomAD v2:
19-50789904-G-T
gnomAD v3:
19-50286647-G-T
gnomAD v4:
19-50286647-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50286647G>T , CM000681.2:g.50286647G>T | GRCh38 |
| NC_000019.9:g.50789904G>T , CM000681.1:g.50789904G>T | GRCh37 |
| NC_000019.8:g.55481716G>T | NCBI36 |
| NG_011645.1:g.88020G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425460.6:c.4606G>T | ENSP00000407879.1:p.Ala1536Ser | |
| ENST00000642316.2:c.4705G>T MANE Select | ENSP00000493594.1:p.Ala1569Ser | |
| ENST00000262269.12:c.*66G>T | ENSP00000262269.9:n.*66G>T | |
| ENST00000376970.6:c.4582G>T | ENSP00000366169.3:p.Ala1528Ser | |
| ENST00000425460.5:c.4606G>T | ENSP00000407879.1:p.Ala1536Ser | |
| ENST00000440075.6:c.511G>T | ENSP00000406273.3:p.Ala171Ser | |
| ENST00000595016.1:n.1884G>T | ||
| ENST00000596571.5:c.4582G>T | ENSP00000472819.1:p.Ala1528Ser | |
| ENST00000598205.5:c.4606G>T | ENSP00000472543.1:p.Ala1536Ser | |
| ENST00000601313.5:c.4705G>T | ENSP00000470298.1:p.Ala1569Ser | |
| NM_001077186.1:c.4606G>T | NP_001070654.1:p.Ala1536Ser | |
| NM_001145809.1:c.4705G>T | NP_001139281.1:p.Ala1569Ser | |
| NM_024729.3:c.4582G>T | NP_079005.3:p.Ala1528Ser | |
| XM_006723386.2:c.4606G>T | XP_006723449.1:p.Ala1536Ser | |
| XM_011527320.1:c.4726G>T | XP_011525622.1:p.Ala1576Ser | |
| XM_011527321.1:c.4702G>T | XP_011525623.1:p.Ala1568Ser | |
| XM_011527322.1:c.4630G>T | XP_011525624.1:p.Ala1544Ser | |
| XM_011527323.1:c.4606G>T | XP_011525625.1:p.Ala1536Ser | |
| XM_006723386.4:c.4606G>T | XP_006723449.1:p.Ala1536Ser | |
| XM_011527320.2:c.4726G>T | XP_011525622.1:p.Ala1576Ser | |
| XM_011527321.2:c.4702G>T | XP_011525623.1:p.Ala1568Ser | |
| XM_011527323.2:c.4606G>T | XP_011525625.1:p.Ala1536Ser | |
| XM_024451721.1:c.4582G>T | XP_024307489.1:p.Ala1528Ser | |
| NM_001077186.2:c.4606G>T | NP_001070654.1:p.Ala1536Ser | |
| NM_001145809.2:c.4705G>T MANE Select | NP_001139281.1:p.Ala1569Ser | |
| NM_024729.4:c.4582G>T | NP_079005.3:p.Ala1528Ser |