Linked Data
dbSNP Id:
rs770963999
ExAC:
2:190428429 G / C
gnomAD v2:
2-190428429-G-C
gnomAD v4:
2-189563703-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189563703G>C , CM000664.2:g.189563703G>C | GRCh38 |
| NC_000002.11:g.190428429G>C , CM000664.1:g.190428429G>C | GRCh37 |
| NC_000002.10:g.190136674G>C | NCBI36 |
| NG_009027.1:g.22109C>G , LRG_837:g.22109C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.1283C>G MANE Select | ENSP00000261024.3:p.Thr428Ser | |
| ENST00000261024.6:c.1283C>G | ENSP00000261024.2:p.Thr428Ser | |
| NM_014585.5:c.1283C>G , LRG_837t1:c.1283C>G | NP_055400.1:p.Thr428Ser | |
| XM_005246505.1:c.1163C>G | XP_005246562.1:p.Thr388Ser | |
| XM_005246505.2:c.1163C>G | XP_005246562.1:p.Thr388Ser | |
| XM_017003938.2:c.1163C>G | XP_016859427.1:p.Thr388Ser | |
| NM_014585.6:c.1283C>G MANE Select | NP_055400.1:p.Thr428Ser |