Linked Data
ClinVar Variation Id:
1408607
ClinVar RCV Id:
RCV001910047
dbSNP Id:
rs1594219189
gnomAD v3:
12-101770488-C-T
gnomAD v4:
12-101770488-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770488C>T , CM000674.2:g.101770488C>T | GRCh38 |
| NC_000012.11:g.102164266C>T , CM000674.1:g.102164266C>T | GRCh37 |
| NC_000012.10:g.100688397C>T | NCBI36 |
| NG_021243.1:g.65380G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.1031G>A MANE Select | ENSP00000299314.7:p.Arg344Gln | |
| ENST00000299314.11:c.1031G>A | ENSP00000299314.7:p.Arg344Gln | |
| ENST00000549940.5:c.1031G>A | ENSP00000449150.1:p.Arg344Gln | |
| NM_024312.4:c.1031G>A | NP_077288.2:p.Arg344Gln | |
| XM_006719593.2:c.1031G>A | XP_006719656.1:p.Arg344Gln | |
| XM_011538731.1:c.950G>A | XP_011537033.1:p.Arg317Gln | |
| XM_006719593.3:c.1031G>A | XP_006719656.1:p.Arg344Gln | |
| XM_011538731.2:c.950G>A | XP_011537033.1:p.Arg317Gln | |
| XM_017019961.1:c.815G>A | XP_016875450.1:p.Arg272Gln | |
| XM_017019962.2:c.-197G>A | XP_016875451.1:n.-197G>A | |
| NM_024312.5:c.1031G>A MANE Select | NP_077288.2:p.Arg344Gln |