Linked Data
dbSNP Id:
rs758105683
ExAC:
2:190428502 G / T
gnomAD v2:
2-190428502-G-T
gnomAD v4:
2-189563776-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189563776G>T , CM000664.2:g.189563776G>T | GRCh38 |
| NC_000002.11:g.190428502G>T , CM000664.1:g.190428502G>T | GRCh37 |
| NC_000002.10:g.190136747G>T | NCBI36 |
| NG_009027.1:g.22036C>A , LRG_837:g.22036C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.1210C>A MANE Select | ENSP00000261024.3:p.Pro404Thr | |
| ENST00000261024.6:c.1210C>A | ENSP00000261024.2:p.Pro404Thr | |
| NM_014585.5:c.1210C>A , LRG_837t1:c.1210C>A | NP_055400.1:p.Pro404Thr | |
| XM_005246505.1:c.1090C>A | XP_005246562.1:p.Pro364Thr | |
| XM_005246505.2:c.1090C>A | XP_005246562.1:p.Pro364Thr | |
| XM_017003938.2:c.1090C>A | XP_016859427.1:p.Pro364Thr | |
| NM_014585.6:c.1210C>A MANE Select | NP_055400.1:p.Pro404Thr |