Linked Data
ClinVar Variation Id:
36429
ClinVar RCV Id:
RCV000058202
RCV000171814
RCV000172896
RCV000203011
RCV000243613
RCV000401763
RCV000517346
RCV001841531
RCV004549392
dbSNP Id:
rs36210421
ExAC:
7:150644428 C / A
gnomAD v2:
7-150644428-C-A
gnomAD v3:
7-150947340-C-A
gnomAD v4:
7-150947340-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947340C>A , CM000669.2:g.150947340C>A | GRCh38 |
| NC_000007.13:g.150644428C>A , CM000669.1:g.150644428C>A | GRCh37 |
| NC_000007.12:g.150275361C>A | NCBI36 |
| NG_008916.1:g.35587G>T , LRG_288:g.35587G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3973G>T | ||
| ENST00000262186.10:c.3140G>T MANE Select | ENSP00000262186.5:p.Arg1047Leu | |
| ENST00000330883.9:c.2120G>T | ENSP00000328531.4:p.Arg707Leu | |
| ENST00000262186.9:c.3140G>T | ENSP00000262186.5:p.Arg1047Leu | |
| ENST00000330883.8:c.2120G>T | ENSP00000328531.4:p.Arg707Leu | |
| NM_000238.3:c.3140G>T , LRG_288t1:c.3140G>T | NP_000229.1:p.Arg1047Leu | |
| NM_172057.2:c.2120G>T , LRG_288t3:c.2120G>T | NP_742054.1:p.Arg707Leu | |
| XM_011516185.1:c.2840G>T | XP_011514487.1:p.Arg947Leu | |
| XM_011516185.2:c.2840G>T | XP_011514487.1:p.Arg947Leu | |
| XM_017012195.1:c.2990G>T | XP_016867684.1:p.Arg997Leu | |
| XM_017012196.1:c.2963G>T | XP_016867685.1:p.Arg988Leu | |
| NM_000238.4:c.3140G>T MANE Select | NP_000229.1:p.Arg1047Leu | |
| NM_172057.3:c.2120G>T | NP_742054.1:p.Arg707Leu |