Linked Data
ClinVar Variation Id:
453052
ClinVar RCV Id:
RCV000644472
RCV000756010
RCV001137904
RCV001137903
RCV002272277
RCV002527653
RCV003900094
dbSNP Id:
rs371723224
ExAC:
2:74598276 G / A
gnomAD v2:
2-74598276-G-A
gnomAD v3:
2-74371149-G-A
gnomAD v4:
2-74371149-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74371149G>A , CM000664.2:g.74371149G>A | GRCh38 |
| NC_000002.11:g.74598276G>A , CM000664.1:g.74598276G>A | GRCh37 |
| NC_000002.10:g.74451784G>A | NCBI36 |
| NG_008735.2:g.25939C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.673C>T | ENSP00000354791.4:p.Arg225Trp | |
| ENST00000628224.3:c.673C>T MANE Select | ENSP00000487279.2:p.Arg225Trp | |
| ENST00000680606.1:c.622C>T | ENSP00000505612.1:p.Arg208Trp | |
| ENST00000361874.7:c.673C>T | ENSP00000354791.3:p.Arg225Trp | |
| ENST00000394003.7:c.652C>T | ENSP00000377571.3:p.Arg218Trp | |
| ENST00000409240.5:c.562C>T | ENSP00000386406.1:p.Arg188Trp | |
| ENST00000409438.5:c.271C>T | ENSP00000387270.1:p.Arg91Trp | |
| ENST00000409567.7:c.613C>T | ENSP00000386843.3:p.Arg205Trp | |
| ENST00000409868.5:c.622C>T | ENSP00000387327.1:p.Arg208Trp | |
| ENST00000434055.5:c.562C>T | ENSP00000416711.1:p.Arg188Trp | |
| ENST00000463583.5:n.426C>T | ||
| ENST00000466110.5:n.894C>T | ||
| ENST00000470351.1:n.387C>T | ||
| ENST00000628224.2:c.622C>T | ENSP00000487279.1:p.Arg208Trp | |
| ENST00000633691.1:c.271C>T | ENSP00000487724.1:p.Arg91Trp | |
| NM_001135040.2:c.613C>T | NP_001128512.1:p.Arg205Trp | |
| NM_001135041.2:c.271C>T | NP_001128513.1:p.Arg91Trp | |
| NM_001190836.1:c.562C>T | NP_001177765.1:p.Arg188Trp | |
| NM_001190837.1:c.652C>T | NP_001177766.1:p.Arg218Trp | |
| NM_004082.4:c.673C>T | NP_004073.2:p.Arg225Trp | |
| NM_023019.3:c.271C>T | NP_075408.1:p.Arg91Trp | |
| NR_033935.1:n.874C>T | ||
| NM_001135040.3:c.613C>T | NP_001128512.1:p.Arg205Trp | |
| NM_001135041.3:c.271C>T | NP_001128513.1:p.Arg91Trp | |
| NM_001190836.2:c.562C>T | NP_001177765.1:p.Arg188Trp | |
| NM_001190837.2:c.652C>T | NP_001177766.1:p.Arg218Trp | |
| NM_001378991.1:c.622C>T | NP_001365920.1:p.Arg208Trp | |
| NM_001378992.1:c.604C>T | NP_001365921.1:p.Arg202Trp | |
| NM_004082.5:c.673C>T MANE Select | NP_004073.2:p.Arg225Trp | |
| NM_023019.4:c.271C>T | NP_075408.1:p.Arg91Trp | |
| NR_033935.2:n.653C>T |