Linked Data
ClinVar Variation Id:
1397614
ClinVar RCV Id:
RCV001906212
dbSNP Id:
rs2149903496
gnomAD v4:
5-35873648-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35873648G>C , CM000667.2:g.35873648G>C | GRCh38 |
| NC_000005.9:g.35873750G>C , CM000667.1:g.35873750G>C | GRCh37 |
| NC_000005.8:g.35909507G>C | NCBI36 |
| NG_009567.1:g.21760G>C , LRG_74:g.21760G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.706G>C MANE Select | ENSP00000306157.3:p.Gly236Arg | |
| ENST00000303115.7:c.706G>C | ENSP00000306157.3:p.Gly236Arg | |
| ENST00000505093.1:c.115G>C | ENSP00000426069.1:p.Gly39Arg | |
| ENST00000506850.5:c.706G>C | ENSP00000421207.1:p.Gly236Arg | |
| ENST00000509668.1:n.448G>C | ||
| ENST00000514217.5:c.538-1864G>C | ENSP00000427688.1:n.538-1864G>C | |
| NM_002185.3:c.706G>C | NP_002176.2:p.Gly236Arg | |
| NR_120485.1:n.641-1864G>C | ||
| XM_005248299.2:c.706G>C | XP_005248356.1:p.Gly236Arg | |
| XM_005248300.1:c.706G>C | XP_005248357.1:p.Gly236Arg | |
| XM_011514037.1:c.706G>C | XP_011512339.1:p.Gly236Arg | |
| NM_002185.4:c.706G>C | NP_002176.2:p.Gly236Arg | |
| NR_120485.2:n.667-1864G>C | ||
| XM_005248299.4:c.706G>C | XP_005248356.1:p.Gly236Arg | |
| NM_002185.5:c.706G>C MANE Select | NP_002176.2:p.Gly236Arg | |
| NR_120485.3:n.625-1864G>C |