Linked Data
ClinVar Variation Id:
56557
ClinVar RCV Id:
RCV000049970
dbSNP Id:
rs386833993
ExAC:
6:74345205 C / T
gnomAD v2:
6-74345205-C-T
gnomAD v4:
6-73635482-C-T
PubMed:
PMID:10947946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73635482C>T , CM000668.2:g.73635482C>T | GRCh38 |
| NC_000006.11:g.74345205C>T , CM000668.1:g.74345205C>T | GRCh37 |
| NC_000006.10:g.74401926C>T | NCBI36 |
| NG_008272.1:g.23533G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.719G>A MANE Select | ENSP00000348019.5:p.Trp240Ter | |
| ENST00000355773.5:c.719G>A | ENSP00000348019.5:p.Trp240Ter | |
| ENST00000481996.1:n.485G>A | ||
| NM_012434.4:c.719G>A | NP_036566.1:p.Trp240Ter | |
| XM_005248710.2:c.668G>A | XP_005248767.1:p.Trp223Ter | |
| XM_005248711.1:c.521G>A | XP_005248768.1:p.Trp174Ter | |
| XM_011535750.1:c.719G>A | XP_011534052.1:p.Trp240Ter | |
| XM_011535751.1:c.719G>A | XP_011534053.1:p.Trp240Ter | |
| NM_012434.5:c.719G>A MANE Select | NP_036566.1:p.Trp240Ter | |
| NM_001382629.1:c.488G>A | NP_001369558.1:p.Trp163Ter | |
| NM_001382630.1:c.719G>A | NP_001369559.1:p.Trp240Ter | |
| NM_001382631.1:c.740G>A | NP_001369560.1:p.Trp247Ter | |
| NM_001382632.1:c.632G>A | NP_001369561.1:p.Trp211Ter | |
| NM_001382633.1:c.719G>A | NP_001369562.1:p.Trp240Ter | |
| NM_001382634.1:c.719G>A | NP_001369563.1:p.Trp240Ter | |
| NM_001382635.1:c.716G>A | NP_001369564.1:p.Trp239Ter | |
| NM_001382636.1:c.401G>A | NP_001369565.1:p.Trp134Ter |