Linked Data
ClinVar Variation Id:
218975
ClinVar RCV Id:
RCV000203317
dbSNP Id:
rs864309729
gnomAD v4:
4-145642485-G-C
PubMed:
PMID:20301409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145642485G>C , CM000666.2:g.145642485G>C | GRCh38 |
| NC_000004.11:g.146563637G>C , CM000666.1:g.146563637G>C | GRCh37 |
| NC_000004.10:g.146783087G>C | NCBI36 |
| NG_007536.1:g.28188G>C | |
| NG_007536.2:g.48444G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000541599.5:c.562G>C | ENSP00000442284.3:p.Gly188Arg | |
| ENST00000647947.1:c.*346G>C | ENSP00000496781.1:n.*346G>C | |
| ENST00000648388.1:c.562G>C | ENSP00000497046.1:p.Gly188Arg | |
| ENST00000649156.2:c.562G>C MANE Select | ENSP00000497008.1:p.Gly188Arg | |
| ENST00000649173.1:c.562G>C | ENSP00000497871.1:p.Gly188Arg | |
| ENST00000649704.1:c.562G>C | ENSP00000497680.1:p.Gly188Arg | |
| ENST00000679563.1:c.562G>C | ENSP00000506503.1:p.Gly188Arg | |
| ENST00000679930.1:c.*81G>C | ENSP00000506293.1:n.*81G>C | |
| ENST00000281317.9:c.562G>C | ENSP00000281317.5:p.Gly188Arg | |
| ENST00000506919.1:n.1050G>C | ||
| ENST00000511969.4:c.562G>C | ENSP00000427422.1:p.Gly188Arg | |
| ENST00000541599.4:c.562G>C | ENSP00000442284.2:p.Gly188Arg | |
| NM_172250.2:c.562G>C | NP_758454.1:p.Gly188Arg | |
| XM_011531684.1:c.562G>C | XP_011529986.1:p.Gly188Arg | |
| XM_011531685.1:c.562G>C | XP_011529987.1:p.Gly188Arg | |
| XM_011531686.1:c.67G>C | XP_011529988.1:p.Gly23Arg | |
| NM_172250.3:c.562G>C MANE Select | NP_758454.1:p.Gly188Arg | |
| XM_011531684.3:c.562G>C | XP_011529986.1:p.Gly188Arg | |
| XM_011531685.2:c.562G>C | XP_011529987.1:p.Gly188Arg | |
| XM_011531686.2:c.67G>C | XP_011529988.1:p.Gly23Arg | |
| NM_001375644.1:c.562G>C | NP_001362573.1:p.Gly188Arg |