Linked Data
ClinVar Variation Id:
372959
dbSNP Id:
rs747169857
ExAC:
17:73836131 G / A
gnomAD v2:
17-73836131-G-A
gnomAD v3:
17-75840050-G-A
gnomAD v4:
17-75840050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75840050G>A , CM000679.2:g.75840050G>A | GRCh38 |
| NC_000017.10:g.73836131G>A , CM000679.1:g.73836131G>A | GRCh37 |
| NC_000017.9:g.71347726G>A | NCBI36 |
| NG_007266.1:g.9668C>T , LRG_122:g.9668C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587504.6:c.900C>T | ENSP00000514388.1:p.Ser300= | |
| ENST00000592386.6:c.901C>T | ENSP00000466826.2:p.Gln301Ter | |
| ENST00000699511.1:c.99C>T | ||
| ENST00000207549.9:c.919C>T MANE Select | ENSP00000207549.3:p.Gln307Ter | |
| ENST00000207549.8:c.919C>T | ENSP00000207549.3:p.Gln307Ter | |
| ENST00000412096.6:c.919C>T | ENSP00000388093.1:p.Gln307Ter | |
| ENST00000586147.1:c.118-3794C>T | ENSP00000466543.1:n.118-3794C>T | |
| ENST00000587105.1:c.141C>T | ||
| ENST00000587504.5:n.922C>T | ||
| ENST00000591563.5:n.1114C>T | ||
| ENST00000592386.5:c.898C>T | ENSP00000466826.1:p.Gln300Ter | |
| NM_199242.2:c.919C>T , LRG_122t1:c.919C>T | NP_954712.1:p.Gln307Ter | |
| XM_011524504.1:c.919C>T | XP_011522806.1:p.Gln307Ter | |
| XM_011524505.1:c.919C>T | XP_011522807.1:p.Gln307Ter | |
| XM_011524506.1:c.919C>T | XP_011522808.1:p.Gln307Ter | |
| XM_011524507.1:c.310C>T | XP_011522809.1:p.Gln104Ter | |
| XM_011524508.1:c.310C>T | XP_011522810.1:p.Gln104Ter | |
| XM_011524504.2:c.919C>T | XP_011522806.1:p.Gln307Ter | |
| XM_011524507.2:c.310C>T | XP_011522809.1:p.Gln104Ter | |
| XM_024450640.1:c.310C>T | XP_024306408.1:p.Gln104Ter | |
| NM_199242.3:c.919C>T MANE Select | NP_954712.1:p.Gln307Ter |