Linked Data
ClinVar Variation Id:
330263
dbSNP Id:
rs2071347
ExAC:
19:6495736 A / G
gnomAD v2:
19-6495736-A-G
gnomAD v3:
19-6495725-A-G
gnomAD v4:
19-6495725-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6495725A>G , CM000681.2:g.6495725A>G | GRCh38 |
| NC_000019.9:g.6495736A>G , CM000681.1:g.6495736A>G | GRCh37 |
| NC_000019.8:g.6446736A>G | NCBI36 |
| NG_033896.1:g.12124T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264071.7:c.774T>C MANE Select | ENSP00000264071.1:p.Val258= | |
| ENST00000264071.6:c.774T>C | ENSP00000264071.1:p.Val258= | |
| ENST00000540257.5:c.774T>C | ENSP00000443590.1:p.Val258= | |
| ENST00000594276.5:c.462T>C | ENSP00000472481.1:p.Val154= | |
| NM_001289123.1:c.927T>C | NP_001276052.1:p.Val309= | |
| NM_001289127.1:c.909T>C | NP_001276056.1:p.Val303= | |
| NM_001289129.1:c.774T>C | NP_001276058.1:p.Val258= | |
| NM_001289130.1:c.558T>C | NP_001276059.1:p.Val186= | |
| NM_001289131.1:c.558T>C | NP_001276060.1:p.Val186= | |
| NM_006087.3:c.774T>C | NP_006078.2:p.Val258= | |
| NM_006087.4:c.774T>C MANE Select | NP_006078.2:p.Val258= | |
| NM_001289123.2:c.927T>C | NP_001276052.1:p.Val309= | |
| NM_001289127.2:c.909T>C | NP_001276056.1:p.Val303= | |
| NM_001289129.2:c.774T>C | NP_001276058.1:p.Val258= | |
| NM_001289130.2:c.558T>C | NP_001276059.1:p.Val186= | |
| NM_001289131.2:c.558T>C | NP_001276060.1:p.Val186= |