Linked Data
ClinVar Variation Id:
323106
dbSNP Id:
rs113547405
ExAC:
17:39661599 G / T
gnomAD v2:
17-39661599-G-T
gnomAD v3:
17-41505347-G-T
gnomAD v4:
17-41505347-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41505347G>T , CM000679.2:g.41505347G>T | GRCh38 |
| NC_000017.10:g.39661599G>T , CM000679.1:g.39661599G>T | GRCh37 |
| NC_000017.9:g.36915125G>T | NCBI36 |
| NG_008406.1:g.5267C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246635.8:c.204C>A MANE Select | ENSP00000246635.3:p.Gly68= | |
| ENST00000246635.7:c.204C>A | ENSP00000246635.3:p.Gly68= | |
| ENST00000336861.7:c.204C>A | ENSP00000336604.3:p.Gly68= | |
| ENST00000464634.2:c.104+100C>A | ENSP00000466525.1:n.104+100C>A | |
| ENST00000468313.5:n.151+100C>A | ||
| ENST00000587435.1:c.204C>A | ENSP00000467833.1:p.Gly68= | |
| ENST00000587544.5:c.204C>A | ENSP00000468221.1:p.Gly68= | |
| ENST00000590425.1:c.-6-112C>A | ENSP00000466465.1:n.-6-112C>A | |
| NM_002274.3:c.204C>A | NP_002265.2:p.Gly68= | |
| NM_153490.2:c.204C>A | NP_705694.2:p.Gly68= | |
| NM_153490.3:c.204C>A MANE Select | NP_705694.3:p.Gly68= | |
| NM_002274.4:c.204C>A | NP_002265.3:p.Gly68= |