Linked Data
ClinVar Variation Id:
44244
ClinVar RCV Id:
RCV000037224
RCV000056766
RCV000157164
RCV001039932
RCV001250885
RCV003298065
RCV003398603
RCV003486560
dbSNP Id:
rs62636492
ExAC:
2:220286086 C / T
gnomAD v2:
2-220286086-C-T
gnomAD v3:
2-219421364-C-T
gnomAD v4:
2-219421364-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421364C>T , CM000664.2:g.219421364C>T | GRCh38 |
| NC_000002.11:g.220286086C>T , CM000664.1:g.220286086C>T | GRCh37 |
| NC_000002.10:g.219994330C>T | NCBI36 |
| NG_008043.1:g.7988C>T , LRG_380:g.7988C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.522C>T | ||
| ENST00000683013.1:n.436C>T | ||
| ENST00000373960.4:c.1048C>T MANE Select | ENSP00000363071.3:p.Arg350Trp | |
| ENST00000373960.3:c.1048C>T | ENSP00000363071.3:p.Arg350Trp | |
| ENST00000477226.5:n.520C>T | ||
| ENST00000492726.1:n.443C>T | ||
| NM_001927.3:c.1048C>T , LRG_380t1:c.1048C>T | NP_001918.3:p.Arg350Trp | |
| NM_001927.4:c.1048C>T MANE Select | NP_001918.3:p.Arg350Trp | |
| NM_001382708.1:c.1045C>T | NP_001369637.1:p.Arg349Trp | |
| NM_001382709.1:c.736-120C>T | NP_001369638.1:n.736-120C>T | |
| NM_001382710.1:c.1024-45C>T | NP_001369639.1:n.1024-45C>T | |
| NM_001382711.1:c.1027C>T | NP_001369640.1:p.Arg343Trp | |
| NM_001382712.1:c.1048C>T | NP_001369641.1:p.Arg350Trp | |
| NM_001382713.1:c.778C>T | NP_001369642.1:p.Arg260Trp |