Linked Data
ClinVar Variation Id:
2193974
dbSNP Id:
rs1572934110
gnomAD v3:
2-73450123-G-C
gnomAD v4:
2-73450123-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73450123G>C , CM000664.2:g.73450123G>C | GRCh38 |
| NC_000002.11:g.73677250G>C , CM000664.1:g.73677250G>C | GRCh37 |
| NC_000002.10:g.73530758G>C | NCBI36 |
| NG_011690.1:g.69371G>C , LRG_741:g.69371G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.3215G>C | ENSP00000507671.1:p.Gly1072Ala | |
| ENST00000682801.1:c.3215G>C | ENSP00000507862.1:p.Gly1072Ala | |
| ENST00000682859.1:c.3215G>C | ENSP00000508222.1:p.Gly1072Ala | |
| ENST00000683791.1:c.685+17832G>C | ||
| ENST00000684460.1:c.667G>C | ||
| ENST00000684548.1:c.3215G>C | ENSP00000507421.1:p.Gly1072Ala | |
| ENST00000684656.1:c.667G>C | ||
| ENST00000613296.6:c.3596G>C MANE Select | ENSP00000482968.1:p.Gly1199Ala | |
| ENST00000484298.5:c.3470G>C | ENSP00000478155.1:p.Gly1157Ala | |
| ENST00000613296.4:c.3596G>C | ENSP00000482968.1:p.Gly1199Ala | |
| ENST00000614410.4:c.3596G>C | ENSP00000479094.1:p.Gly1199Ala | |
| NM_015120.4:c.3599G>C , LRG_741t1:c.3599G>C | NP_055935.4:p.Gly1200Ala | |
| NM_001378454.1:c.3596G>C MANE Select | NP_001365383.1:p.Gly1199Ala |