Linked Data
ClinVar Variation Id:
2040720
ClinVar RCV Id:
RCV002890749
dbSNP Id:
rs779598598
ExAC:
19:4099311 C / T
gnomAD v2:
19-4099311-C-T
gnomAD v3:
19-4099313-C-T
gnomAD v4:
19-4099313-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099313C>T , CM000681.2:g.4099313C>T | GRCh38 |
| NC_000019.9:g.4099311C>T , CM000681.1:g.4099311C>T | GRCh37 |
| NC_000019.8:g.4050311C>T | NCBI36 |
| NG_007996.1:g.29816G>A , LRG_750:g.29816G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1246G>A | ||
| ENST00000687128.1:n.1246G>A | ||
| ENST00000688002.1:n.1101G>A | ||
| ENST00000689792.1:n.711G>A | ||
| ENST00000262948.10:c.807G>A MANE Select | ENSP00000262948.4:p.Pro269= | |
| ENST00000262948.9:c.807G>A | ENSP00000262948.3:p.Pro269= | |
| ENST00000394867.8:c.516G>A | ENSP00000378336.1:p.Pro172= | |
| ENST00000593364.5:n.754G>A | ||
| ENST00000595715.1:n.622G>A | ||
| ENST00000597263.5:n.169+1706G>A | ||
| ENST00000599021.1:c.29+1706G>A | ||
| ENST00000600584.5:n.1367G>A | ||
| ENST00000601786.5:n.1108G>A | ||
| NM_030662.3:c.807G>A , LRG_750t1:c.807G>A | NP_109587.1:p.Pro269= | |
| XM_006722799.2:c.705+1706G>A | XP_006722862.1:n.705+1706G>A | |
| XM_011528133.1:c.237G>A | XP_011526435.1:p.Pro79= | |
| XM_017026989.1:c.807G>A | XP_016882478.1:p.Pro269= | |
| XM_017026990.1:c.705+1706G>A | XP_016882479.1:n.705+1706G>A | |
| NM_030662.4:c.807G>A MANE Select | NP_109587.1:p.Pro269= |