Linked Data
ClinVar Variation Id:
365709
ClinVar RCV Id:
RCV000308784
RCV000506113
RCV001078492
RCV002230719
RCV002278628
RCV002446627
RCV000838662
dbSNP Id:
rs75648697
ExAC:
9:137620579 G / A
gnomAD v2:
9-137620579-G-A
gnomAD v3:
9-134728733-G-A
gnomAD v4:
9-134728733-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134728733G>A , CM000671.2:g.134728733G>A | GRCh38 |
| NC_000009.11:g.137620579G>A , CM000671.1:g.137620579G>A | GRCh37 |
| NC_000009.10:g.136760400G>A | NCBI36 |
| NG_008030.1:g.91928G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.850G>A | ENSP00000360885.4:p.Glu284Lys | |
| ENST00000371817.8:c.850G>A MANE Select | ENSP00000360882.3:p.Glu284Lys | |
| ENST00000371817.7:c.850G>A | ENSP00000360882.3:p.Glu284Lys | |
| ENST00000618395.4:c.850G>A | ENSP00000481360.1:p.Glu284Lys | |
| NM_000093.4:c.850G>A | NP_000084.3:p.Glu284Lys | |
| NM_001278074.1:c.850G>A | NP_001265003.1:p.Glu284Lys | |
| XR_929712.1:n.1252G>A | ||
| XR_929713.1:n.1252G>A | ||
| XM_017014266.2:c.850G>A | XP_016869755.1:p.Glu284Lys | |
| XR_001746183.1:n.1248G>A | ||
| NM_000093.5:c.850G>A MANE Select | NP_000084.3:p.Glu284Lys |