Linked Data
ClinVar Variation Id:
2155108
ClinVar RCV Id:
RCV003072167
dbSNP Id:
rs368898383
ExAC:
2:72692321 G / C
gnomAD v2:
2-72692321-G-C
gnomAD v3:
2-72465192-G-C
gnomAD v4:
2-72465192-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72465192G>C , CM000664.2:g.72465192G>C | GRCh38 |
| NC_000002.11:g.72692321G>C , CM000664.1:g.72692321G>C | GRCh37 |
| NC_000002.10:g.72545829G>C | NCBI36 |
| NG_050967.1:g.365857C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272427.11:c.1948C>G MANE Select | ENSP00000272427.7:p.Arg650Gly | |
| ENST00000272427.10:c.1948C>G | ENSP00000272427.6:p.Arg650Gly | |
| ENST00000410104.1:c.1948C>G | ENSP00000386698.1:p.Arg650Gly | |
| ENST00000464347.2:n.370C>G | ||
| ENST00000634650.1:c.1948C>G | ENSP00000489442.1:p.Arg650Gly | |
| NM_015189.1:c.1948C>G | NP_056004.1:p.Arg650Gly | |
| XM_005264223.1:c.1948C>G | XP_005264280.1:p.Arg650Gly | |
| XM_005264224.1:c.952C>G | XP_005264281.1:p.Arg318Gly | |
| XM_011532710.1:c.1879C>G | XP_011531012.1:p.Arg627Gly | |
| XM_011532711.1:c.1948C>G | XP_011531013.1:p.Arg650Gly | |
| XM_011532712.1:c.1948C>G | XP_011531014.1:p.Arg650Gly | |
| NM_001321729.1:c.1948C>G | NP_001308658.1:p.Arg650Gly | |
| NM_001321730.1:c.1813C>G | NP_001308659.1:p.Arg605Gly | |
| NM_001321731.1:c.1948C>G | NP_001308660.1:p.Arg650Gly | |
| NM_001321733.1:c.1813C>G | NP_001308662.1:p.Arg605Gly | |
| NM_001321734.1:c.1609C>G | NP_001308663.1:p.Arg537Gly | |
| NM_015189.2:c.1948C>G | NP_056004.1:p.Arg650Gly | |
| NR_135773.1:n.2080C>G | ||
| NR_135774.1:n.1932+15424C>G | ||
| XM_011532711.3:c.1948C>G | XP_011531013.1:p.Arg650Gly | |
| XM_011532712.3:c.1948C>G | XP_011531014.1:p.Arg650Gly | |
| XM_017003641.1:c.1402C>G | XP_016859130.1:p.Arg468Gly | |
| XM_017003642.1:c.952C>G | XP_016859131.1:p.Arg318Gly | |
| NM_001321729.2:c.1948C>G | NP_001308658.1:p.Arg650Gly | |
| NM_001321730.2:c.1813C>G | NP_001308659.1:p.Arg605Gly | |
| NM_001321731.2:c.1948C>G | NP_001308660.1:p.Arg650Gly | |
| NM_001321733.2:c.1813C>G | NP_001308662.1:p.Arg605Gly | |
| NM_001321734.2:c.1609C>G | NP_001308663.1:p.Arg537Gly | |
| NM_015189.3:c.1948C>G MANE Select | NP_056004.1:p.Arg650Gly | |
| NR_135773.2:n.2071C>G | ||
| NR_135774.2:n.1923+15424C>G |