Linked Data
ClinVar Variation Id:
180298
dbSNP Id:
rs150147262
ExAC:
9:137593039 G / T
gnomAD v2:
9-137593039-G-T
gnomAD v3:
9-134701193-G-T
gnomAD v4:
9-134701193-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134701193G>T , CM000671.2:g.134701193G>T | GRCh38 |
| NC_000009.11:g.137593039G>T , CM000671.1:g.137593039G>T | GRCh37 |
| NC_000009.10:g.136732860G>T | NCBI36 |
| NG_008030.1:g.64388G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371820.4:c.514G>T | ENSP00000360885.4:p.Val172Phe | |
| ENST00000371817.8:c.514G>T MANE Select | ENSP00000360882.3:p.Val172Phe | |
| ENST00000371817.7:c.514G>T | ENSP00000360882.3:p.Val172Phe | |
| ENST00000464187.1:n.936G>T | ||
| ENST00000618395.4:c.514G>T | ENSP00000481360.1:p.Val172Phe | |
| NM_000093.4:c.514G>T | NP_000084.3:p.Val172Phe | |
| NM_001278074.1:c.514G>T | NP_001265003.1:p.Val172Phe | |
| XR_929712.1:n.916G>T | ||
| XR_929713.1:n.916G>T | ||
| XM_017014266.2:c.514G>T | XP_016869755.1:p.Val172Phe | |
| XR_001746183.1:n.912G>T | ||
| NM_000093.5:c.514G>T MANE Select | NP_000084.3:p.Val172Phe |