Linked Data
ClinVar Variation Id:
536153
dbSNP Id:
rs140066692
ExAC:
2:74592271 G / A
gnomAD v2:
2-74592271-G-A
gnomAD v3:
2-74365144-G-A
gnomAD v4:
2-74365144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74365144G>A , CM000664.2:g.74365144G>A | GRCh38 |
| NC_000002.11:g.74592271G>A , CM000664.1:g.74592271G>A | GRCh37 |
| NC_000002.10:g.74445779G>A | NCBI36 |
| NG_008735.2:g.31944C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.3127C>T | ENSP00000354791.4:p.Arg1043Cys | |
| ENST00000628224.3:c.3127C>T MANE Select | ENSP00000487279.2:p.Arg1043Cys | |
| ENST00000680606.1:c.3076C>T | ENSP00000505612.1:p.Arg1026Cys | |
| ENST00000361874.7:c.3127C>T | ENSP00000354791.3:p.Arg1043Cys | |
| ENST00000394003.7:c.3106C>T | ENSP00000377571.3:p.Arg1036Cys | |
| ENST00000409240.5:c.3016C>T | ENSP00000386406.1:p.Arg1006Cys | |
| ENST00000409438.5:c.2725C>T | ENSP00000387270.1:p.Arg909Cys | |
| ENST00000409567.7:c.3067C>T | ENSP00000386843.3:p.Arg1023Cys | |
| ENST00000409868.5:c.3076C>T | ENSP00000387327.1:p.Arg1026Cys | |
| ENST00000434055.5:c.*426C>T | ENSP00000416711.1:n.*426C>T | |
| ENST00000466110.5:n.4379C>T | ||
| ENST00000497666.1:n.97-3607C>T | ||
| ENST00000628224.2:c.3076C>T | ENSP00000487279.1:p.Arg1026Cys | |
| ENST00000633691.1:c.2725C>T | ENSP00000487724.1:p.Arg909Cys | |
| NM_001135040.2:c.3067C>T | NP_001128512.1:p.Arg1023Cys | |
| NM_001135041.2:c.2725C>T | NP_001128513.1:p.Arg909Cys | |
| NM_001190836.1:c.3016C>T | NP_001177765.1:p.Arg1006Cys | |
| NM_001190837.1:c.3106C>T | NP_001177766.1:p.Arg1036Cys | |
| NM_004082.4:c.3127C>T | NP_004073.2:p.Arg1043Cys | |
| NM_023019.3:c.2725C>T | NP_075408.1:p.Arg909Cys | |
| NR_033935.1:n.3411C>T | ||
| NM_001135040.3:c.3067C>T | NP_001128512.1:p.Arg1023Cys | |
| NM_001135041.3:c.2725C>T | NP_001128513.1:p.Arg909Cys | |
| NM_001190836.2:c.3016C>T | NP_001177765.1:p.Arg1006Cys | |
| NM_001190837.2:c.3106C>T | NP_001177766.1:p.Arg1036Cys | |
| NM_001378991.1:c.3076C>T | NP_001365920.1:p.Arg1026Cys | |
| NM_001378992.1:c.3058C>T | NP_001365921.1:p.Arg1020Cys | |
| NM_004082.5:c.3127C>T MANE Select | NP_004073.2:p.Arg1043Cys | |
| NM_023019.4:c.2725C>T | NP_075408.1:p.Arg909Cys | |
| NR_033935.2:n.3190C>T |