Linked Data
ClinVar Variation Id:
67432
ClinVar RCV Id:
RCV000058158
RCV000181888
RCV000699321
RCV001160952
RCV001841720
RCV002504963
RCV002433555
dbSNP Id:
rs76420733
gnomAD v2:
7-150644909-G-A
gnomAD v3:
7-150947821-G-A
gnomAD v4:
7-150947821-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947821G>A , CM000669.2:g.150947821G>A | GRCh38 |
| NC_000007.13:g.150644909G>A , CM000669.1:g.150644909G>A | GRCh37 |
| NC_000007.12:g.150275842G>A | NCBI36 |
| NG_008916.1:g.35106C>T , LRG_288:g.35106C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3583C>T | ||
| ENST00000262186.10:c.2750C>T MANE Select | ENSP00000262186.5:p.Pro917Leu | |
| ENST00000330883.9:c.1730C>T | ENSP00000328531.4:p.Pro577Leu | |
| ENST00000262186.9:c.2750C>T | ENSP00000262186.5:p.Pro917Leu | |
| ENST00000330883.8:c.1730C>T | ENSP00000328531.4:p.Pro577Leu | |
| NM_000238.3:c.2750C>T , LRG_288t1:c.2750C>T | NP_000229.1:p.Pro917Leu | |
| NM_172057.2:c.1730C>T , LRG_288t3:c.1730C>T | NP_742054.1:p.Pro577Leu | |
| XM_011516185.1:c.2450C>T | XP_011514487.1:p.Pro817Leu | |
| XM_011516186.1:c.2693-130C>T | XP_011514488.1:n.2693-130C>T | |
| XM_011516185.2:c.2450C>T | XP_011514487.1:p.Pro817Leu | |
| XM_011516186.3:c.2693-130C>T | XP_011514488.1:n.2693-130C>T | |
| XM_017012195.1:c.2600C>T | XP_016867684.1:p.Pro867Leu | |
| XM_017012196.1:c.2573C>T | XP_016867685.1:p.Pro858Leu | |
| NM_000238.4:c.2750C>T MANE Select | NP_000229.1:p.Pro917Leu | |
| NM_172057.3:c.1730C>T | NP_742054.1:p.Pro577Leu |