Linked Data
ClinVar Variation Id:
136911
ClinVar RCV Id:
RCV000124470
RCV000382000
RCV001000046
RCV001507179
RCV002269911
RCV002277218
RCV003654202
RCV002310686
RCV002492458
dbSNP Id:
rs61729558
ExAC:
9:137726831 C / T
gnomAD v2:
9-137726831-C-T
gnomAD v3:
9-134834985-C-T
gnomAD v4:
9-134834985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134834985C>T , CM000671.2:g.134834985C>T | GRCh38 |
| NC_000009.11:g.137726831C>T , CM000671.1:g.137726831C>T | GRCh37 |
| NC_000009.10:g.136866652C>T | NCBI36 |
| NG_008030.1:g.198180C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5151C>T | ENSP00000360885.4:p.Asp1717= | |
| ENST00000371817.8:c.5151C>T MANE Select | ENSP00000360882.3:p.Asp1717= | |
| ENST00000371817.7:c.5151C>T | ENSP00000360882.3:p.Asp1717= | |
| ENST00000371820.3:c.409C>T | ||
| ENST00000618395.4:c.5151C>T | ENSP00000481360.1:p.Asp1717= | |
| NM_000093.4:c.5151C>T | NP_000084.3:p.Asp1717= | |
| NM_001278074.1:c.5151C>T | NP_001265003.1:p.Asp1717= | |
| NR_103451.2:n.71-14776G>A | ||
| XR_929712.1:n.5835C>T | ||
| XR_929713.1:n.5703C>T | ||
| NM_000093.5:c.5151C>T MANE Select | NP_000084.3:p.Asp1717= |