Linked Data
ClinVar Variation Id:
328265
ClinVar RCV Id:
RCV000375097
dbSNP Id:
rs369071579
ExAC:
19:12763260 C / T
gnomAD v2:
19-12763260-C-T
gnomAD v3:
19-12652446-C-T
gnomAD v4:
19-12652446-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12652446C>T , CM000681.2:g.12652446C>T | GRCh38 |
| NC_000019.9:g.12763260C>T , CM000681.1:g.12763260C>T | GRCh37 |
| NC_000019.8:g.12624260C>T | NCBI36 |
| NG_008318.1:g.19332G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.1845G>A MANE Select | ENSP00000395473.2:p.Thr615= | |
| ENST00000221363.8:c.1842G>A | ENSP00000221363.4:p.Thr614= | |
| ENST00000433513.5:n.451G>A | ||
| ENST00000456935.6:c.1845G>A | ENSP00000395473.2:p.Thr615= | |
| ENST00000466794.5:n.2435G>A | ||
| ENST00000593686.1:c.438G>A | ||
| ENST00000595880.5:n.442G>A | ||
| ENST00000596591.1:c.195-17G>A | ||
| NM_000528.3:c.1845G>A | NP_000519.2:p.Thr615= | |
| NM_001173498.1:c.1842G>A | NP_001166969.1:p.Thr614= | |
| XM_005259913.1:c.1848G>A | XP_005259970.1:p.Thr616= | |
| XM_011528017.1:c.744G>A | XP_011526319.1:p.Thr248= | |
| XM_005259913.2:c.1848G>A | XP_005259970.1:p.Thr616= | |
| XM_024451518.1:c.744G>A | XP_024307286.1:p.Thr248= | |
| NM_000528.4:c.1845G>A MANE Select | NP_000519.2:p.Thr615= | |
| NM_001173498.2:c.1842G>A | NP_001166969.1:p.Thr614= |