Linked Data
dbSNP Id:
rs570884822
ExAC:
1:117690289 C / A
gnomAD v2:
1-117690289-C-A
gnomAD v3:
1-117147667-C-A
gnomAD v4:
1-117147667-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.117147667C>A , CM000663.2:g.117147667C>A | GRCh38 |
| NC_000001.10:g.117690289C>A , CM000663.1:g.117690289C>A | GRCh37 |
| NC_000001.9:g.117491812C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369458.8:c.840G>T MANE Select | ENSP00000358470.3:p.Met280Ile | |
| ENST00000328189.7:c.492G>T | ENSP00000328168.3:p.Met164Ile | |
| ENST00000359008.8:c.849G>T | ENSP00000351899.4:p.Met283Ile | |
| ENST00000369458.7:c.840G>T | ENSP00000358470.3:p.Met280Ile | |
| ENST00000539893.5:c.555G>T | ENSP00000444724.1:p.Met185Ile | |
| NM_001253849.1:c.555G>T | NP_001240778.1:p.Met185Ile | |
| NM_001253850.1:c.492G>T | NP_001240779.1:p.Met164Ile | |
| NM_024626.3:c.840G>T | NP_078902.2:p.Met280Ile | |
| NR_045603.1:n.1035G>T | ||
| NR_045604.1:n.739G>T | ||
| XM_011542143.1:c.891G>T | XP_011540445.1:p.Met297Ile | |
| XM_011542144.1:c.894G>T | XP_011540446.1:p.Met298Ile | |
| XM_011542145.1:c.855G>T | XP_011540447.1:p.Met285Ile | |
| XM_011542143.2:c.990G>T | XP_011540445.2:p.Met330Ile | |
| XM_017002335.2:c.855G>T | XP_016857824.1:p.Met285Ile | |
| NM_024626.4:c.840G>T MANE Select | NP_078902.2:p.Met280Ile | |
| NR_045603.2:n.1002G>T | ||
| NR_045604.2:n.706G>T | ||
| NM_001253849.2:c.555G>T | NP_001240778.1:p.Met185Ile | |
| NM_001253850.2:c.492G>T | NP_001240779.1:p.Met164Ile |