Linked Data
ClinVar Variation Id:
466596
ClinVar RCV Id:
RCV002358515
dbSNP Id:
rs764495455
ExAC:
11:68678999 T / C
gnomAD v2:
11-68678999-T-C
gnomAD v3:
11-68911531-T-C
gnomAD v4:
11-68911531-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68911531T>C , CM000673.2:g.68911531T>C | GRCh38 |
| NC_000011.9:g.68678999T>C , CM000673.1:g.68678999T>C | GRCh37 |
| NC_000011.8:g.68435575T>C | NCBI36 |
| NG_007976.1:g.12681T>C , LRG_250:g.12681T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.639T>C MANE Select | ENSP00000255078.4:p.His213= | |
| ENST00000539224.2:c.602T>C | ||
| ENST00000674583.1:c.602T>C | ||
| ENST00000674955.1:c.639T>C | ENSP00000502463.1:p.His213= | |
| ENST00000675142.1:n.602T>C | ||
| ENST00000675615.1:c.639T>C | ENSP00000502413.1:p.His213= | |
| ENST00000675674.1:n.602T>C | ||
| ENST00000675683.1:c.98+2900T>C | ||
| ENST00000675873.1:c.602T>C | ||
| ENST00000676173.1:n.683T>C | ||
| ENST00000676228.1:c.541T>C | ENSP00000502375.1:p.Trp181Arg | |
| ENST00000255078.7:c.639T>C | ENSP00000255078.3:p.His213= | |
| ENST00000539224.1:c.541T>C | ENSP00000440465.1:p.Trp181Arg | |
| NM_002180.2:c.639T>C , LRG_250t1:c.639T>C | NP_002171.2:p.His213= | |
| XM_005273974.2:c.-373T>C | XP_005274031.1:n.-373T>C | |
| XM_005273976.1:c.639T>C | XP_005274033.1:p.His213= | |
| XR_247198.1:n.741T>C | ||
| XR_949903.1:n.741T>C | ||
| XM_005273976.2:c.639T>C | XP_005274033.1:p.His213= | |
| XM_017017669.2:c.-373T>C | XP_016873158.1:n.-373T>C | |
| XM_017017671.2:c.639T>C | XP_016873160.1:p.His213= | |
| XR_949903.3:n.737T>C | ||
| NM_002180.3:c.639T>C MANE Select | NP_002171.2:p.His213= |