Linked Data
ClinVar Variation Id:
234773
dbSNP Id:
rs761012607
ExAC:
5:127680116 T / C
gnomAD v2:
5-127680116-T-C
gnomAD v3:
5-128344424-T-C
gnomAD v4:
5-128344424-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128344424T>C , CM000667.2:g.128344424T>C | GRCh38 |
| NC_000005.9:g.127680116T>C , CM000667.1:g.127680116T>C | GRCh37 |
| NC_000005.8:g.127708015T>C | NCBI36 |
| NG_008750.1:g.198620A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.3304A>G MANE Select | ENSP00000262464.4:p.Ser1102Gly | |
| ENST00000262464.8:c.3304A>G | ENSP00000262464.4:p.Ser1102Gly | |
| ENST00000508053.5:c.3304A>G | ENSP00000424571.1:p.Ser1102Gly | |
| ENST00000508989.5:c.3205A>G | ENSP00000425596.1:p.Ser1069Gly | |
| ENST00000619499.4:c.3301A>G | ENSP00000482132.1:p.Ser1101Gly | |
| NM_001999.3:c.3304A>G | NP_001990.2:p.Ser1102Gly | |
| XM_017009228.2:c.3151A>G | XP_016864717.1:p.Ser1051Gly | |
| NM_001999.4:c.3304A>G MANE Select | NP_001990.2:p.Ser1102Gly |