Linked Data
ClinVar Variation Id:
8404
ClinVar RCV Id:
RCV000008912
RCV000144867
RCV000644476
RCV000986781
RCV001140673
RCV001140674
RCV001572734
RCV002444424
RCV003952351
dbSNP Id:
rs121909344
ExAC:
2:74594023 G / A
gnomAD v2:
2-74594023-G-A
gnomAD v3:
2-74366896-G-A
gnomAD v4:
2-74366896-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74366896G>A , CM000664.2:g.74366896G>A | GRCh38 |
| NC_000002.11:g.74594023G>A , CM000664.1:g.74594023G>A | GRCh37 |
| NC_000002.10:g.74447531G>A | NCBI36 |
| NG_008735.2:g.30192C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.2353C>T | ENSP00000354791.4:p.Arg785Trp | |
| ENST00000628224.3:c.2353C>T MANE Select | ENSP00000487279.2:p.Arg785Trp | |
| ENST00000680606.1:c.2302C>T | ENSP00000505612.1:p.Arg768Trp | |
| ENST00000361874.7:c.2353C>T | ENSP00000354791.3:p.Arg785Trp | |
| ENST00000394003.7:c.2332C>T | ENSP00000377571.3:p.Arg778Trp | |
| ENST00000409240.5:c.2242C>T | ENSP00000386406.1:p.Arg748Trp | |
| ENST00000409438.5:c.1951C>T | ENSP00000387270.1:p.Arg651Trp | |
| ENST00000409567.7:c.2293C>T | ENSP00000386843.3:p.Arg765Trp | |
| ENST00000409868.5:c.2302C>T | ENSP00000387327.1:p.Arg768Trp | |
| ENST00000434055.5:c.2242C>T | ENSP00000416711.1:p.Arg748Trp | |
| ENST00000466110.5:n.3170C>T | ||
| ENST00000495643.1:n.381C>T | ||
| ENST00000497666.1:n.96+2404C>T | ||
| ENST00000628224.2:c.2302C>T | ENSP00000487279.1:p.Arg768Trp | |
| ENST00000633691.1:c.1951C>T | ENSP00000487724.1:p.Arg651Trp | |
| NM_001135040.2:c.2293C>T | NP_001128512.1:p.Arg765Trp | |
| NM_001135041.2:c.1951C>T | NP_001128513.1:p.Arg651Trp | |
| NM_001190836.1:c.2242C>T | NP_001177765.1:p.Arg748Trp | |
| NM_001190837.1:c.2332C>T | NP_001177766.1:p.Arg778Trp | |
| NM_004082.4:c.2353C>T | NP_004073.2:p.Arg785Trp | |
| NM_023019.3:c.1951C>T | NP_075408.1:p.Arg651Trp | |
| NR_033935.1:n.2554C>T | ||
| NM_001135040.3:c.2293C>T | NP_001128512.1:p.Arg765Trp | |
| NM_001135041.3:c.1951C>T | NP_001128513.1:p.Arg651Trp | |
| NM_001190836.2:c.2242C>T | NP_001177765.1:p.Arg748Trp | |
| NM_001190837.2:c.2332C>T | NP_001177766.1:p.Arg778Trp | |
| NM_001378991.1:c.2302C>T | NP_001365920.1:p.Arg768Trp | |
| NM_001378992.1:c.2284C>T | NP_001365921.1:p.Arg762Trp | |
| NM_004082.5:c.2353C>T MANE Select | NP_004073.2:p.Arg785Trp | |
| NM_023019.4:c.1951C>T | NP_075408.1:p.Arg651Trp | |
| NR_033935.2:n.2333C>T |