Linked Data
ClinVar Variation Id:
411159
dbSNP Id:
rs770453248
ExAC:
1:160011275 C / T
gnomAD v2:
1-160011275-C-T
gnomAD v3:
1-160041485-C-T
gnomAD v4:
1-160041485-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160041485C>T , CM000663.2:g.160041485C>T | GRCh38 |
| NC_000001.10:g.160011275C>T , CM000663.1:g.160011275C>T | GRCh37 |
| NC_000001.9:g.158277899C>T | NCBI36 |
| NG_016411.1:g.33687G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.671+349G>A | ||
| ENST00000636689.1:n.95-2137G>A | ||
| ENST00000637644.1:c.487+561G>A | ENSP00000490282.1:n.487+561G>A | |
| ENST00000638728.1:c.1048G>A | ENSP00000492619.1:p.Gly350Arg | |
| ENST00000638840.1:c.770G>A | ||
| ENST00000638868.1:c.1048G>A | ENSP00000491250.1:p.Gly350Arg | |
| ENST00000639408.1:c.487+561G>A | ENSP00000491635.1:n.487+561G>A | |
| ENST00000640017.1:c.669+349G>A | ENSP00000491337.1:n.669+349G>A | |
| ENST00000640914.1:c.124+349G>A | ||
| ENST00000644903.1:c.1048G>A MANE Select | ENSP00000495557.1:p.Gly350Arg | |
| ENST00000368089.3:c.1048G>A | ENSP00000357068.3:p.Gly350Arg | |
| ENST00000509700.1:n.462+349G>A | ||
| NM_002241.4:c.1048G>A | NP_002232.2:p.Gly350Arg | |
| NM_002241.5:c.1048G>A MANE Select | NP_002232.2:p.Gly350Arg |