Linked Data
ClinVar Variation Id:
852068
ClinVar RCV Id:
RCV001056613
dbSNP Id:
rs1018550681
gnomAD v2:
5-127671243-C-T
gnomAD v3:
5-128335551-C-T
gnomAD v4:
5-128335551-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335551C>T , CM000667.2:g.128335551C>T | GRCh38 |
| NC_000005.9:g.127671243C>T , CM000667.1:g.127671243C>T | GRCh37 |
| NC_000005.8:g.127699142C>T | NCBI36 |
| NG_008750.1:g.207493G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703783.1:n.535G>A | ||
| ENST00000703785.1:n.616G>A | ||
| ENST00000262464.9:c.3751G>A MANE Select | ENSP00000262464.4:p.Gly1251Arg | |
| ENST00000262464.8:c.3751G>A | ENSP00000262464.4:p.Gly1251Arg | |
| ENST00000507835.5:c.301G>A | ENSP00000426839.1:p.Gly101Arg | |
| ENST00000508053.5:c.3751G>A | ENSP00000424571.1:p.Gly1251Arg | |
| ENST00000508989.5:c.3652G>A | ENSP00000425596.1:p.Gly1218Arg | |
| ENST00000619499.4:c.3748G>A | ENSP00000482132.1:p.Gly1250Arg | |
| NM_001999.3:c.3751G>A | NP_001990.2:p.Gly1251Arg | |
| XM_017009228.2:c.3598G>A | XP_016864717.1:p.Gly1200Arg | |
| NM_001999.4:c.3751G>A MANE Select | NP_001990.2:p.Gly1251Arg |