Linked Data
ClinVar Variation Id:
1417376
ClinVar RCV Id:
RCV001938327
dbSNP Id:
rs763878620
ExAC:
11:66281901 G / C
gnomAD v2:
11-66281901-G-C
gnomAD v3:
11-66514430-G-C
gnomAD v4:
11-66514430-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66514430G>C , CM000673.2:g.66514430G>C | GRCh38 |
| NC_000011.9:g.66281901G>C , CM000673.1:g.66281901G>C | GRCh37 |
| NC_000011.8:g.66038477G>C | NCBI36 |
| NG_009093.1:g.8783G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.184G>C MANE Select | ENSP00000317469.7:p.Gly62Arg | |
| ENST00000318312.11:c.184G>C | ENSP00000317469.7:p.Gly62Arg | |
| ENST00000393994.4:c.184G>C | ENSP00000377563.2:p.Gly62Arg | |
| ENST00000419755.3:c.295G>C | ENSP00000398526.3:p.Gly99Arg | |
| ENST00000455748.6:c.184G>C | ENSP00000405764.2:p.Gly62Arg | |
| ENST00000524458.5:c.59G>C | ENSP00000436195.1:p.Trp20Ser | |
| ENST00000524705.2:c.-20-76G>C | ENSP00000436927.1:n.-20-76G>C | |
| ENST00000524907.5:n.174G>C | ||
| ENST00000525809.5:c.160-1110G>C | ENSP00000431187.1:n.160-1110G>C | |
| ENST00000526035.5:c.149G>C | ENSP00000434197.1:p.Trp50Ser | |
| ENST00000526760.5:c.149G>C | ENSP00000432140.1:p.Trp50Ser | |
| ENST00000526815.5:c.94G>C | ENSP00000436860.1:p.Gly32Arg | |
| ENST00000527251.5:c.59G>C | ENSP00000434360.1:p.Trp20Ser | |
| ENST00000529766.5:n.191G>C | ||
| ENST00000529955.5:n.202G>C | ||
| ENST00000532908.5:c.149G>C | ENSP00000431866.1:p.Trp50Ser | |
| ENST00000533557.5:c.149G>C | ENSP00000434619.1:p.Trp50Ser | |
| ENST00000533644.5:c.184G>C | ENSP00000436073.1:p.Gly62Arg | |
| ENST00000534730.5:n.196G>C | ||
| ENST00000630659.2:c.149G>C | ENSP00000486455.1:p.Trp50Ser | |
| NM_024649.4:c.184G>C | NP_078925.3:p.Gly62Arg | |
| NM_024649.5:c.184G>C MANE Select | NP_078925.3:p.Gly62Arg |