Linked Data
dbSNP Id:
rs766763104
gnomAD v2:
2-175618967-A-C
gnomAD v3:
2-174754239-A-C
gnomAD v4:
2-174754239-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174754239A>C , CM000664.2:g.174754239A>C | GRCh38 |
| NC_000002.11:g.175618967A>C , CM000664.1:g.175618967A>C | GRCh37 |
| NC_000002.10:g.175327213A>C | NCBI36 |
| NG_008172.1:g.15234T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.31T>G | ENSP00000490338.2:p.Ser11Ala | |
| ENST00000672640.1:c.31T>G | ENSP00000500507.1:p.Ser11Ala | |
| ENST00000261007.9:c.595T>G | ENSP00000261007.5:p.Ser199Ala | |
| ENST00000348749.9:c.520T>G MANE Select | ENSP00000261008.5:p.Ser174Ala | |
| ENST00000409219.5:c.520T>G | ENSP00000386611.1:p.Ser174Ala | |
| ENST00000409323.1:c.520T>G | ENSP00000386684.1:p.Ser174Ala | |
| ENST00000409542.5:c.274T>G | ENSP00000387026.1:p.Ser92Ala | |
| ENST00000435083.5:c.*164T>G | ENSP00000395805.1:n.*164T>G | |
| NM_000079.3:c.520T>G | NP_000070.1:p.Ser174Ala | |
| NM_001039523.2:c.595T>G | NP_001034612.1:p.Ser199Ala | |
| XM_017003256.1:c.616T>G | XP_016858745.1:p.Ser206Ala | |
| XM_017003257.1:c.541T>G | XP_016858746.1:p.Ser181Ala | |
| NM_000079.4:c.520T>G MANE Select | NP_000070.1:p.Ser174Ala | |
| NM_001039523.3:c.595T>G | NP_001034612.1:p.Ser199Ala |