Linked Data
ClinVar Variation Id:
661669
ClinVar RCV Id:
RCV000819140
dbSNP Id:
rs745579139
ExAC:
19:12769154 C / A
gnomAD v2:
19-12769154-C-A
gnomAD v4:
19-12658340-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658340C>A , CM000681.2:g.12658340C>A | GRCh38 |
| NC_000019.9:g.12769154C>A , CM000681.1:g.12769154C>A | GRCh37 |
| NC_000019.8:g.12630154C>A | NCBI36 |
| NG_008318.1:g.13438G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1114G>T MANE Select | ENSP00000395473.2:p.Val372Leu | |
| ENST00000221363.8:c.1111G>T | ENSP00000221363.4:p.Val371Leu | |
| ENST00000456935.6:c.1114G>T | ENSP00000395473.2:p.Val372Leu | |
| ENST00000465830.1:n.278G>T | ||
| ENST00000466794.5:n.1013G>T | ||
| ENST00000495617.1:n.280+391G>T | ||
| NM_000528.3:c.1114G>T | NP_000519.2:p.Val372Leu | |
| NM_001173498.1:c.1111G>T | NP_001166969.1:p.Val371Leu | |
| XM_005259913.1:c.1117G>T | XP_005259970.1:p.Val373Leu | |
| XM_011528017.1:c.13G>T | XP_011526319.1:p.Val5Leu | |
| XM_005259913.2:c.1117G>T | XP_005259970.1:p.Val373Leu | |
| XM_024451518.1:c.13G>T | XP_024307286.1:p.Val5Leu | |
| NM_000528.4:c.1114G>T MANE Select | NP_000519.2:p.Val372Leu | |
| NM_001173498.2:c.1111G>T | NP_001166969.1:p.Val371Leu |