Linked Data
ClinVar Variation Id:
1586236
ClinVar RCV Id:
RCV002098123
dbSNP Id:
rs1488100564
gnomAD v2:
2-73717330-G-C
gnomAD v4:
2-73490203-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490203G>C , CM000664.2:g.73490203G>C | GRCh38 |
| NC_000002.11:g.73717330G>C , CM000664.1:g.73717330G>C | GRCh37 |
| NC_000002.10:g.73570838G>C | NCBI36 |
| NG_011690.1:g.109451G>C , LRG_741:g.109451G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7863G>C | ENSP00000507671.1:p.Gly2621= | |
| ENST00000682801.1:c.7863G>C | ENSP00000507862.1:p.Gly2621= | |
| ENST00000682859.1:c.7863G>C | ENSP00000508222.1:p.Gly2621= | |
| ENST00000683791.1:c.1255G>C | ||
| ENST00000684460.1:c.5315G>C | ||
| ENST00000684548.1:c.7863G>C | ENSP00000507421.1:p.Gly2621= | |
| ENST00000684590.1:c.2310G>C | ENSP00000507376.1:p.Gly770= | |
| ENST00000684656.1:c.5315G>C | ||
| ENST00000613296.6:c.8244G>C MANE Select | ENSP00000482968.1:p.Gly2748= | |
| ENST00000651434.1:c.896-29572G>C | ||
| ENST00000423048.5:c.3030+45G>C | ENSP00000399833.1:n.3030+45G>C | |
| ENST00000484298.5:c.8118G>C | ENSP00000478155.1:p.Gly2706= | |
| ENST00000613296.4:c.8244G>C | ENSP00000482968.1:p.Gly2748= | |
| ENST00000614410.4:c.8244G>C | ENSP00000479094.1:p.Gly2748= | |
| ENST00000620466.4:n.2047G>C | ||
| NM_015120.4:c.8247G>C , LRG_741t1:c.8247G>C | NP_055935.4:p.Gly2749= | |
| NM_001378454.1:c.8244G>C MANE Select | NP_001365383.1:p.Gly2748= |