Linked Data
ClinVar Variation Id:
337078
ClinVar RCV Id:
RCV000333292
RCV000362337
RCV000517373
RCV000550997
RCV001083433
RCV002323545
RCV003932341
dbSNP Id:
rs72659383
ExAC:
2:74592252 C / T
gnomAD v2:
2-74592252-C-T
gnomAD v3:
2-74365125-C-T
gnomAD v4:
2-74365125-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74365125C>T , CM000664.2:g.74365125C>T | GRCh38 |
| NC_000002.11:g.74592252C>T , CM000664.1:g.74592252C>T | GRCh37 |
| NC_000002.10:g.74445760C>T | NCBI36 |
| NG_008735.2:g.31963G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.3146G>A | ENSP00000354791.4:p.Arg1049Gln | |
| ENST00000628224.3:c.3146G>A MANE Select | ENSP00000487279.2:p.Arg1049Gln | |
| ENST00000680606.1:c.3095G>A | ENSP00000505612.1:p.Arg1032Gln | |
| ENST00000361874.7:c.3146G>A | ENSP00000354791.3:p.Arg1049Gln | |
| ENST00000394003.7:c.3125G>A | ENSP00000377571.3:p.Arg1042Gln | |
| ENST00000409240.5:c.3035G>A | ENSP00000386406.1:p.Arg1012Gln | |
| ENST00000409438.5:c.2744G>A | ENSP00000387270.1:p.Arg915Gln | |
| ENST00000409567.7:c.3086G>A | ENSP00000386843.3:p.Arg1029Gln | |
| ENST00000409868.5:c.3095G>A | ENSP00000387327.1:p.Arg1032Gln | |
| ENST00000434055.5:c.*445G>A | ENSP00000416711.1:n.*445G>A | |
| ENST00000466110.5:n.4398G>A | ||
| ENST00000497666.1:n.97-3588G>A | ||
| ENST00000628224.2:c.3095G>A | ENSP00000487279.1:p.Arg1032Gln | |
| ENST00000633691.1:c.2744G>A | ENSP00000487724.1:p.Arg915Gln | |
| NM_001135040.2:c.3086G>A | NP_001128512.1:p.Arg1029Gln | |
| NM_001135041.2:c.2744G>A | NP_001128513.1:p.Arg915Gln | |
| NM_001190836.1:c.3035G>A | NP_001177765.1:p.Arg1012Gln | |
| NM_001190837.1:c.3125G>A | NP_001177766.1:p.Arg1042Gln | |
| NM_004082.4:c.3146G>A | NP_004073.2:p.Arg1049Gln | |
| NM_023019.3:c.2744G>A | NP_075408.1:p.Arg915Gln | |
| NR_033935.1:n.3430G>A | ||
| NM_001135040.3:c.3086G>A | NP_001128512.1:p.Arg1029Gln | |
| NM_001135041.3:c.2744G>A | NP_001128513.1:p.Arg915Gln | |
| NM_001190836.2:c.3035G>A | NP_001177765.1:p.Arg1012Gln | |
| NM_001190837.2:c.3125G>A | NP_001177766.1:p.Arg1042Gln | |
| NM_001378991.1:c.3095G>A | NP_001365920.1:p.Arg1032Gln | |
| NM_001378992.1:c.3077G>A | NP_001365921.1:p.Arg1026Gln | |
| NM_004082.5:c.3146G>A MANE Select | NP_004073.2:p.Arg1049Gln | |
| NM_023019.4:c.2744G>A | NP_075408.1:p.Arg915Gln | |
| NR_033935.2:n.3209G>A |