Linked Data
ClinVar Variation Id:
784384
ClinVar RCV Id:
RCV000966060
dbSNP Id:
rs142873734
ExAC:
19:2989715 C / T
gnomAD v2:
19-2989715-C-T
gnomAD v3:
19-2989717-C-T
gnomAD v4:
19-2989717-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2989717C>T , CM000681.2:g.2989717C>T | GRCh38 |
| NC_000019.9:g.2989715C>T , CM000681.1:g.2989715C>T | GRCh37 |
| NC_000019.8:g.2940715C>T | NCBI36 |
| NG_051563.1:g.17303C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246112.9:c.1176C>T MANE Select | ENSP00000246112.3:p.Asn392= | |
| ENST00000246112.8:c.1176C>T | ENSP00000246112.3:p.Asn392= | |
| ENST00000452088.5:c.807C>T | ENSP00000406893.1:p.Asn269= | |
| ENST00000469572.1:n.548C>T | ||
| ENST00000478073.6:n.1227C>T | ||
| ENST00000497878.5:n.869C>T | ||
| ENST00000617937.4:c.807C>T | ENSP00000483606.2:p.Asn269= | |
| NM_001143986.1:c.1176C>T | NP_001137458.1:p.Asn392= | |
| NM_024760.2:c.807C>T | NP_079036.1:p.Asn269= | |
| XM_005259645.2:c.1176C>T | XP_005259702.1:p.Asn392= | |
| XM_011528300.1:c.1176C>T | XP_011526602.1:p.Asn392= | |
| XM_011528301.1:c.807C>T | XP_011526603.1:p.Asn269= | |
| XM_011528302.1:c.807C>T | XP_011526604.1:p.Asn269= | |
| XM_011528303.1:c.807C>T | XP_011526605.1:p.Asn269= | |
| XM_011528304.1:c.807C>T | XP_011526606.1:p.Asn269= | |
| XM_011528305.1:c.657C>T | XP_011526607.1:p.Asn219= | |
| XM_011528306.1:c.657C>T | XP_011526608.1:p.Asn219= | |
| XM_011528307.1:c.657C>T | XP_011526609.1:p.Asn219= | |
| XM_011528300.2:c.1176C>T | XP_011526602.1:p.Asn392= | |
| XM_011528301.2:c.807C>T | XP_011526603.1:p.Asn269= | |
| XM_024451722.1:c.807C>T | XP_024307490.1:p.Asn269= | |
| XM_024451723.1:c.807C>T | XP_024307491.1:p.Asn269= | |
| XM_024451724.1:c.657C>T | XP_024307492.1:p.Asn219= | |
| NM_001143986.2:c.1176C>T MANE Select | NP_001137458.1:p.Asn392= | |
| NM_024760.3:c.807C>T | NP_079036.1:p.Asn269= |