Linked Data
ClinVar Variation Id:
954341
ClinVar RCV Id:
RCV001226782
dbSNP Id:
rs748553015
gnomAD v4:
1-160041484-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160041484C>G , CM000663.2:g.160041484C>G | GRCh38 |
| NC_000001.10:g.160011274C>G , CM000663.1:g.160011274C>G | GRCh37 |
| NC_000001.9:g.158277898C>G | NCBI36 |
| NG_016411.1:g.33688G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.671+350G>C | ||
| ENST00000636689.1:n.95-2136G>C | ||
| ENST00000637644.1:c.487+562G>C | ENSP00000490282.1:n.487+562G>C | |
| ENST00000638728.1:c.1049G>C | ENSP00000492619.1:p.Gly350Ala | |
| ENST00000638840.1:c.771G>C | ||
| ENST00000638868.1:c.1049G>C | ENSP00000491250.1:p.Gly350Ala | |
| ENST00000639408.1:c.487+562G>C | ENSP00000491635.1:n.487+562G>C | |
| ENST00000640017.1:c.669+350G>C | ENSP00000491337.1:n.669+350G>C | |
| ENST00000640914.1:c.124+350G>C | ||
| ENST00000644903.1:c.1049G>C MANE Select | ENSP00000495557.1:p.Gly350Ala | |
| ENST00000368089.3:c.1049G>C | ENSP00000357068.3:p.Gly350Ala | |
| ENST00000509700.1:n.462+350G>C | ||
| NM_002241.4:c.1049G>C | NP_002232.2:p.Gly350Ala | |
| NM_002241.5:c.1049G>C MANE Select | NP_002232.2:p.Gly350Ala |