Linked Data
ClinVar Variation Id:
7713
ClinVar RCV Id:
RCV000008152
dbSNP Id:
rs104894530
PubMed:
PMID:9781039
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8811080G>C , CM000678.2:g.8811080G>C | GRCh38 |
| NC_000016.9:g.8904937G>C , CM000678.1:g.8904937G>C | GRCh37 |
| NC_000016.8:g.8812438G>C | NCBI36 |
| NG_009209.1:g.18268G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567697.2:n.3517G>C | ||
| ENST00000682008.1:c.349G>C | ENSP00000507849.1:p.Gly117Arg | |
| ENST00000682393.1:c.180G>C | ENSP00000506774.1:p.Gly60= | |
| ENST00000683094.1:c.*70-558G>C | ENSP00000508230.1:n.*70-558G>C | |
| ENST00000683274.1:c.348-558G>C | ENSP00000507262.1:n.348-558G>C | |
| ENST00000683435.1:c.*344-558G>C | ENSP00000508092.1:n.*344-558G>C | |
| ENST00000268261.9:c.349G>C MANE Select | ENSP00000268261.4:p.Gly117Arg | |
| ENST00000268261.8:c.349G>C | ENSP00000268261.4:p.Gly117Arg | |
| ENST00000562318.5:c.*71G>C | ENSP00000454395.1:n.*71G>C | |
| ENST00000564069.1:c.320G>C | ||
| ENST00000565221.5:c.180G>C | ENSP00000457932.1:p.Gly60= | |
| ENST00000565896.5:c.*147G>C | ENSP00000456024.1:n.*147G>C | |
| ENST00000566540.5:c.*70-558G>C | ENSP00000454284.1:n.*70-558G>C | |
| ENST00000566604.5:c.348-558G>C | ENSP00000456774.1:n.348-558G>C | |
| ENST00000566983.5:c.268G>C | ENSP00000457956.1:p.Gly90Arg | |
| ENST00000567697.1:n.3517G>C | ||
| ENST00000568602.5:c.*202G>C | ENSP00000455066.1:n.*202G>C | |
| ENST00000569958.5:c.179-562G>C | ENSP00000456302.1:n.179-562G>C | |
| ENST00000570076.5:c.179-558G>C | ENSP00000456961.1:n.179-558G>C | |
| ENST00000570134.5:c.*70-558G>C | ENSP00000456275.1:n.*70-558G>C | |
| NM_000303.2:c.349G>C | NP_000294.1:p.Gly117Arg | |
| XM_005255372.3:c.349G>C | XP_005255429.1:p.Gly117Arg | |
| XM_005255373.3:c.100G>C | XP_005255430.1:p.Gly34Arg | |
| XM_005255374.3:c.100G>C | XP_005255431.1:p.Gly34Arg | |
| XM_011522538.1:c.349G>C | XP_011520840.1:p.Gly117Arg | |
| XM_011522539.1:c.-27G>C | XP_011520841.1:n.-27G>C | |
| XM_005255374.4:c.100G>C | XP_005255431.1:p.Gly34Arg | |
| NM_000303.3:c.349G>C MANE Select | NP_000294.1:p.Gly117Arg |