Linked Data
dbSNP Id:
rs779234319
ExAC:
2:190436496 T / G
gnomAD v2:
2-190436496-T-G
gnomAD v4:
2-189571770-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189571770T>G , CM000664.2:g.189571770T>G | GRCh38 |
| NC_000002.11:g.190436496T>G , CM000664.1:g.190436496T>G | GRCh37 |
| NC_000002.10:g.190144741T>G | NCBI36 |
| NG_009027.1:g.14042A>C , LRG_837:g.14042A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.459A>C MANE Select | ENSP00000261024.3:p.Thr153= | |
| ENST00000261024.6:c.459A>C | ENSP00000261024.2:p.Thr153= | |
| ENST00000427241.5:c.459A>C | ENSP00000390005.1:p.Thr153= | |
| NM_014585.5:c.459A>C , LRG_837t1:c.459A>C | NP_055400.1:p.Thr153= | |
| XM_005246505.1:c.339A>C | XP_005246562.1:p.Thr113= | |
| XM_005246505.2:c.339A>C | XP_005246562.1:p.Thr113= | |
| XM_017003938.2:c.339A>C | XP_016859427.1:p.Thr113= | |
| NM_014585.6:c.459A>C MANE Select | NP_055400.1:p.Thr153= |