Linked Data
dbSNP Id:
rs773677036
ExAC:
19:12769108 A / C
gnomAD v2:
19-12769108-A-C
gnomAD v4:
19-12658294-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658294A>C , CM000681.2:g.12658294A>C | GRCh38 |
| NC_000019.9:g.12769108A>C , CM000681.1:g.12769108A>C | GRCh37 |
| NC_000019.8:g.12630108A>C | NCBI36 |
| NG_008318.1:g.13484T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.1160T>G MANE Select | ENSP00000395473.2:p.Phe387Cys | |
| ENST00000221363.8:c.1157T>G | ENSP00000221363.4:p.Phe386Cys | |
| ENST00000456935.6:c.1160T>G | ENSP00000395473.2:p.Phe387Cys | |
| ENST00000465830.1:n.324T>G | ||
| ENST00000466794.5:n.1059T>G | ||
| ENST00000495617.1:n.280+437T>G | ||
| NM_000528.3:c.1160T>G | NP_000519.2:p.Phe387Cys | |
| NM_001173498.1:c.1157T>G | NP_001166969.1:p.Phe386Cys | |
| XM_005259913.1:c.1163T>G | XP_005259970.1:p.Phe388Cys | |
| XM_011528017.1:c.59T>G | XP_011526319.1:p.Phe20Cys | |
| XM_005259913.2:c.1163T>G | XP_005259970.1:p.Phe388Cys | |
| XM_024451518.1:c.59T>G | XP_024307286.1:p.Phe20Cys | |
| NM_000528.4:c.1160T>G MANE Select | NP_000519.2:p.Phe387Cys | |
| NM_001173498.2:c.1157T>G | NP_001166969.1:p.Phe386Cys |