Linked Data
ClinVar Variation Id:
213308
dbSNP Id:
rs764809572
ExAC:
5:127674655 T / C
gnomAD v2:
5-127674655-T-C
gnomAD v3:
5-128338963-T-C
gnomAD v4:
5-128338963-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338963T>C , CM000667.2:g.128338963T>C | GRCh38 |
| NC_000005.9:g.127674655T>C , CM000667.1:g.127674655T>C | GRCh37 |
| NC_000005.8:g.127702554T>C | NCBI36 |
| NG_008750.1:g.204081A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.226A>G | ||
| ENST00000703785.1:n.307A>G | ||
| ENST00000262464.9:c.3442A>G MANE Select | ENSP00000262464.4:p.Ser1148Gly | |
| ENST00000262464.8:c.3442A>G | ENSP00000262464.4:p.Ser1148Gly | |
| ENST00000507835.5:c.-9A>G | ENSP00000426839.1:n.-9A>G | |
| ENST00000508053.5:c.3442A>G | ENSP00000424571.1:p.Ser1148Gly | |
| ENST00000508989.5:c.3343A>G | ENSP00000425596.1:p.Ser1115Gly | |
| ENST00000619499.4:c.3439A>G | ENSP00000482132.1:p.Ser1147Gly | |
| NM_001999.3:c.3442A>G | NP_001990.2:p.Ser1148Gly | |
| XM_017009228.2:c.3289A>G | XP_016864717.1:p.Ser1097Gly | |
| NM_001999.4:c.3442A>G MANE Select | NP_001990.2:p.Ser1148Gly |