Linked Data
ClinVar Variation Id:
838961
ClinVar RCV Id:
RCV001040620
dbSNP Id:
rs772037044
ExAC:
5:90106814 G / T
gnomAD v2:
5-90106814-G-T
gnomAD v3:
5-90810997-G-T
gnomAD v4:
5-90810997-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90810997G>T , CM000667.2:g.90810997G>T | GRCh38 |
| NC_000005.9:g.90106814G>T , CM000667.1:g.90106814G>T | GRCh37 |
| NC_000005.8:g.90142570G>T | NCBI36 |
| NG_007083.1:g.257198G>T | |
| NG_007083.2:g.286654G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.15737G>T MANE Select | ENSP00000384582.2:p.Arg5246Leu | |
| ENST00000425867.3:c.4691G>T | ENSP00000392618.3:p.Arg1564Leu | |
| ENST00000638510.1:n.3004G>T | ||
| ENST00000639431.1:c.265+134788G>T | ENSP00000491057.1:n.265+134788G>T | |
| ENST00000640407.1:c.2147G>T | ENSP00000491425.1:p.Arg716Leu | |
| ENST00000405460.6:c.15737G>T | ENSP00000384582.2:p.Arg5246Leu | |
| ENST00000425867.2:c.2720G>T | ENSP00000392618.2:p.Arg907Leu | |
| NM_032119.3:c.15737G>T | NP_115495.3:p.Arg5246Leu | |
| NR_003149.1:n.15750G>T | ||
| XM_011543675.1:c.15734G>T | XP_011541977.1:p.Arg5245Leu | |
| XM_011543676.1:c.15656G>T | XP_011541978.1:p.Arg5219Leu | |
| XM_011543677.1:c.13040G>T | XP_011541979.1:p.Arg4347Leu | |
| NM_032119.4:c.15737G>T MANE Select | NP_115495.3:p.Arg5246Leu | |
| XM_017009963.2:c.15758G>T | XP_016865452.1:p.Arg5253Leu | |
| XM_017009964.2:c.15755G>T | XP_016865453.1:p.Arg5252Leu | |
| XM_017009965.1:c.15755G>T | XP_016865454.1:p.Arg5252Leu | |
| XM_017009966.2:c.15677G>T | XP_016865455.1:p.Arg5226Leu | |
| XM_017009967.1:c.15662G>T | XP_016865456.1:p.Arg5221Leu | |
| XM_017009968.2:c.15578G>T | XP_016865457.1:p.Arg5193Leu | |
| XM_017009969.2:c.15758G>T | XP_016865458.1:p.Arg5253Leu | |
| XM_017009972.1:c.8876G>T | XP_016865461.1:p.Arg2959Leu | |
| XM_017009973.1:c.8855G>T | XP_016865462.1:p.Arg2952Leu | |
| NR_003149.2:n.15753G>T |