Linked Data
ClinVar Variation Id:
9303
dbSNP Id:
rs104893992
gnomAD v4:
6-45438039-C-T
PubMed:
PMID:10521292
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45438039C>T , CM000668.2:g.45438039C>T | GRCh38 |
| NC_000006.11:g.45405776C>T , CM000668.1:g.45405776C>T | GRCh37 |
| NC_000006.10:g.45513754C>T | NCBI36 |
| NG_008020.1:g.114723C>T | |
| NG_008020.2:g.114723C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646519.1:c.631C>T | ENSP00000496517.1:p.Arg211Trp | |
| ENST00000647337.2:c.673C>T MANE Select | ENSP00000495497.1:p.Arg225Trp | |
| ENST00000359524.7:c.631C>T | ENSP00000352514.5:p.Arg211Trp | |
| ENST00000371432.7:c.673C>T | ENSP00000360486.4:p.Arg225Trp | |
| ENST00000371436.10:c.673C>T | ENSP00000360491.6:p.Arg225Trp | |
| ENST00000371438.5:c.673C>T | ENSP00000360493.1:p.Arg225Trp | |
| ENST00000465038.6:c.673C>T | ENSP00000420707.2:p.Arg225Trp | |
| ENST00000478660.6:c.631C>T | ENSP00000460188.1:p.Arg211Trp | |
| ENST00000483377.5:c.*194C>T | ENSP00000461357.1:n.*194C>T | |
| ENST00000576263.5:c.673C>T | ENSP00000458178.1:p.Arg225Trp | |
| ENST00000625924.1:c.631C>T | ENSP00000485863.1:p.Arg211Trp | |
| NM_001015051.3:c.673C>T | NP_001015051.3:p.Arg225Trp | |
| NM_001024630.3:c.673C>T | NP_001019801.3:p.Arg225Trp | |
| NM_001278478.1:c.631C>T | NP_001265407.1:p.Arg211Trp | |
| XM_006715232.1:c.631C>T | XP_006715295.1:p.Arg211Trp | |
| XM_011514960.1:c.877C>T | XP_011513262.1:p.Arg293Trp | |
| XM_011514961.1:c.877C>T | XP_011513263.1:p.Arg293Trp | |
| XM_011514962.1:c.877C>T | XP_011513264.1:p.Arg293Trp | |
| XM_011514963.1:c.877C>T | XP_011513265.1:p.Arg293Trp | |
| XM_011514964.1:c.877C>T | XP_011513266.1:p.Arg293Trp | |
| XM_011514965.1:c.877C>T | XP_011513267.1:p.Arg293Trp | |
| XM_011514966.1:c.205C>T | XP_011513268.1:p.Arg69Trp | |
| XM_011514967.1:c.877C>T | XP_011513269.1:p.Arg293Trp | |
| XM_011514968.1:c.877C>T | XP_011513270.1:p.Arg293Trp | |
| XR_926323.1:n.1389C>T | ||
| NM_001024630.4:c.673C>T MANE Select | NP_001019801.3:p.Arg225Trp | |
| NM_001278478.2:c.631C>T | NP_001265407.1:p.Arg211Trp | |
| NM_001369405.1:c.631C>T | NP_001356334.1:p.Arg211Trp | |
| NM_001015051.4:c.673C>T | NP_001015051.3:p.Arg225Trp |