Linked Data
ClinVar Variation Id:
5304
ClinVar RCV Id:
RCV001532954
dbSNP Id:
rs104894649
ExAC:
17:16843666 C / T
gnomAD v2:
17-16843666-C-T
gnomAD v3:
17-16940352-C-T
gnomAD v4:
17-16940352-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16940352C>T , CM000679.2:g.16940352C>T | GRCh38 |
| NC_000017.10:g.16843666C>T , CM000679.1:g.16843666C>T | GRCh37 |
| NC_000017.9:g.16784391C>T | NCBI36 |
| NG_007281.1:g.36737G>A , LRG_120:g.36737G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261652.7:c.605G>A MANE Select | ENSP00000261652.2:p.Arg202His | |
| ENST00000261652.6:c.605G>A | ENSP00000261652.2:p.Arg202His | |
| ENST00000579009.1:n.711G>A | ||
| ENST00000579315.5:c.446-7176G>A | ENSP00000464069.1:n.446-7176G>A | |
| ENST00000582931.5:n.350-7415G>A | ||
| ENST00000583789.1:c.467G>A | ENSP00000462952.1:p.Arg156His | |
| ENST00000584950.5:c.467G>A | ENSP00000463582.1:p.Arg156His | |
| NM_012452.2:c.605G>A , LRG_120t1:c.605G>A | NP_036584.1:p.Arg202His | |
| NM_012452.3:c.605G>A MANE Select | NP_036584.1:p.Arg202His |