Linked Data
ClinVar Variation Id:
93320
ClinVar RCV Id:
RCV001248868
dbSNP Id:
rs398123479
ExAC:
11:6413052 G / C
gnomAD v2:
11-6413052-G-C
gnomAD v3:
11-6391822-G-C
gnomAD v4:
11-6391822-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391822G>C , CM000673.2:g.6391822G>C | GRCh38 |
| NC_000011.9:g.6413052G>C , CM000673.1:g.6413052G>C | GRCh37 |
| NC_000011.8:g.6369628G>C | NCBI36 |
| NG_011780.1:g.6398G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342245.9:c.757G>C MANE Select | ENSP00000340409.4:p.Asp253His | |
| ENST00000342245.8:c.757G>C | ENSP00000340409.4:p.Asp253His | |
| ENST00000527275.5:c.754G>C | ENSP00000435350.1:p.Asp252His | |
| ENST00000530395.1:c.-63G>C | ENSP00000431479.1:n.-63G>C | |
| ENST00000531303.5:c.438+319G>C | ENSP00000432625.1:n.438+319G>C | |
| ENST00000533123.5:c.757G>C | ENSP00000435950.1:p.Asp253His | |
| ENST00000533196.1:n.375-184G>C | ||
| ENST00000534405.5:c.757G>C | ENSP00000434353.1:p.Asp253His | |
| NM_000543.4:c.757G>C | NP_000534.3:p.Asp253His | |
| NM_001007593.2:c.754G>C | NP_001007594.2:p.Asp252His | |
| XM_005253075.3:c.757G>C | XP_005253132.1:p.Asp253His | |
| XM_011520303.1:c.757G>C | XP_011518605.1:p.Asp253His | |
| XM_011520304.1:c.757G>C | XP_011518606.1:p.Asp253His | |
| XR_930886.1:n.1055G>C | ||
| NM_001318087.1:c.757G>C | NP_001305016.1:p.Asp253His | |
| NM_001318088.1:c.-205G>C | NP_001305017.1:n.-205G>C | |
| NM_001365135.1:c.757G>C | NP_001352064.1:p.Asp253His | |
| NR_027400.2:n.942G>C | ||
| NR_134502.1:n.623+319G>C | ||
| XM_011520304.2:c.757G>C | XP_011518606.1:p.Asp253His | |
| XR_001747940.2:n.882G>C | ||
| XR_002957158.1:n.882G>C | ||
| NM_000543.5:c.757G>C MANE Select | NP_000534.3:p.Asp253His | |
| NM_001007593.3:c.754G>C | NP_001007594.2:p.Asp252His | |
| NM_001318087.2:c.757G>C | NP_001305016.1:p.Asp253His | |
| NM_001318088.2:c.-205G>C | NP_001305017.1:n.-205G>C | |
| NM_001365135.2:c.757G>C | NP_001352064.1:p.Asp253His | |
| NR_027400.3:n.882G>C | ||
| NR_134502.2:n.563+319G>C |