Linked Data
dbSNP Id:
rs753438514
ExAC:
1:154437612 T / G
gnomAD v2:
1-154437612-T-G
gnomAD v4:
1-154465136-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154465136T>G , CM000663.2:g.154465136T>G | GRCh38 |
| NC_000001.10:g.154437612T>G , CM000663.1:g.154437612T>G | GRCh37 |
| NC_000001.9:g.152704236T>G | NCBI36 |
| NG_012087.1:g.64944T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368485.8:c.1163T>G MANE Select | ENSP00000357470.3:p.Phe388Cys | |
| ENST00000344086.8:c.1069T>G | ENSP00000340589.4:p.Ser357Ala | |
| ENST00000368485.7:c.1163T>G | ENSP00000357470.3:p.Phe388Cys | |
| ENST00000502679.1:n.476T>G | ||
| ENST00000507256.1:n.361T>G | ||
| NM_000565.3:c.1163T>G | NP_000556.1:p.Phe388Cys | |
| NM_181359.2:c.1069T>G | NP_852004.1:p.Ser357Ala | |
| XM_005245139.1:c.927T>G | XP_005245196.1:p.Val309= | |
| XM_005245140.1:c.*4T>G | XP_005245197.1:n.*4T>G | |
| XM_006711298.1:c.1211T>G | XP_006711361.1:p.Phe404Cys | |
| XM_006711299.2:c.1117T>G | XP_006711362.1:p.Ser373Ala | |
| XM_005245139.2:c.927T>G | XP_005245196.1:p.Val309= | |
| XM_005245140.3:c.*4T>G | XP_005245197.1:n.*4T>G | |
| XM_006711298.2:c.1211T>G | XP_006711361.1:p.Phe404Cys | |
| XM_006711299.4:c.1117T>G | XP_006711362.1:p.Ser373Ala | |
| XM_017001199.2:c.1310T>G | XP_016856688.1:p.Phe437Cys | |
| XM_017001200.2:c.1262T>G | XP_016856689.1:p.Phe421Cys | |
| XM_017001201.2:c.*4T>G | XP_016856690.1:n.*4T>G | |
| NM_000565.4:c.1163T>G MANE Select | NP_000556.1:p.Phe388Cys | |
| NM_181359.3:c.1069T>G | NP_852004.1:p.Ser357Ala | |
| NM_001382769.1:c.1262T>G | NP_001369698.1:p.Phe421Cys | |
| NM_001382770.1:c.1256T>G | NP_001369699.1:p.Phe419Cys | |
| NM_001382771.1:c.1211T>G | NP_001369700.1:p.Phe404Cys | |
| NM_001382772.1:c.1157T>G | NP_001369701.1:p.Phe386Cys | |
| NM_001382773.1:c.1117T>G | NP_001369702.1:p.Ser373Ala | |
| NM_001382774.1:c.803T>G | NP_001369703.1:p.Phe268Cys |