Linked Data
ClinVar Variation Id:
5787
dbSNP Id:
rs121908484
ExAC:
19:33334838 G / A
gnomAD v2:
19-33334838-G-A
gnomAD v3:
19-32843932-G-A
gnomAD v4:
19-32843932-G-A
PubMed:
PMID:11157794
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32843932G>A , CM000681.2:g.32843932G>A | GRCh38 |
| NC_000019.9:g.33334838G>A , CM000681.1:g.33334838G>A | GRCh37 |
| NC_000019.8:g.38026678G>A | NCBI36 |
| NG_008258.1:g.30846C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.997C>T MANE Select | ENSP00000023064.3:p.Arg333Trp | |
| ENST00000023064.8:c.997C>T | ENSP00000023064.3:p.Arg333Trp | |
| ENST00000587772.1:c.997C>T | ENSP00000468439.1:p.Arg333Trp | |
| ENST00000590341.5:c.997C>T | ENSP00000464822.1:p.Arg333Trp | |
| ENST00000590465.5:c.*1144C>T | ENSP00000468076.1:n.*1144C>T | |
| ENST00000592232.5:c.*484-1615C>T | ENSP00000465563.1:n.*484-1615C>T | |
| NM_001126335.1:c.997C>T | NP_001119807.1:p.Arg333Trp | |
| NM_001243036.1:c.997C>T | NP_001229965.1:p.Arg333Trp | |
| NM_014270.4:c.997C>T | NP_055085.1:p.Arg333Trp | |
| XM_006722992.1:c.316C>T | XP_006723055.1:p.Arg106Trp | |
| XM_011526402.1:c.997C>T | XP_011524704.1:p.Arg333Trp | |
| XM_011526402.3:c.997C>T | XP_011524704.1:p.Arg333Trp | |
| XM_017026230.1:c.733C>T | XP_016881719.1:p.Arg245Trp | |
| XM_024451334.1:c.370C>T | XP_024307102.1:p.Arg124Trp | |
| NM_014270.5:c.997C>T MANE Select | NP_055085.1:p.Arg333Trp | |
| NM_001126335.2:c.997C>T | NP_001119807.1:p.Arg333Trp | |
| NM_001243036.2:c.997C>T | NP_001229965.1:p.Arg333Trp |