Linked Data
ClinVar Variation Id:
288569
dbSNP Id:
rs143343508
ExAC:
2:20166496 T / A
gnomAD v2:
2-20166496-T-A
gnomAD v3:
2-19966735-T-A
gnomAD v4:
2-19966735-T-A
PubMed:
PMID:29068549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19966735T>A , CM000664.2:g.19966735T>A | GRCh38 |
| NC_000002.11:g.20166496T>A , CM000664.1:g.20166496T>A | GRCh37 |
| NC_000002.10:g.20029977T>A | NCBI36 |
| NG_021212.1:g.28389A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.1183A>T MANE Select | ENSP00000281405.5:p.Asn395Tyr | |
| ENST00000345530.8:c.1183A>T MANE Plus Clinical | ENSP00000314444.5:p.Asn395Tyr | |
| ENST00000281405.8:c.1183A>T | ENSP00000281405.4:p.Asn395Tyr | |
| ENST00000345530.7:c.1183A>T | ENSP00000314444.5:p.Asn395Tyr | |
| ENST00000414212.5:c.1183A>T | ENSP00000390802.1:p.Asn395Tyr | |
| ENST00000445063.5:c.720A>T | ||
| NM_001006657.1:c.1183A>T | NP_001006658.1:p.Asn395Tyr | |
| NM_020779.3:c.1183A>T | NP_065830.2:p.Asn395Tyr | |
| XM_011533007.1:c.-29A>T | XP_011531309.1:n.-29A>T | |
| XR_426989.2:n.1216A>T | ||
| XR_939699.1:n.1216A>T | ||
| XM_011533007.2:c.-29A>T | XP_011531309.1:n.-29A>T | |
| XR_001738862.1:n.1216A>T | ||
| XR_426989.3:n.1216A>T | ||
| XR_939699.3:n.1216A>T | ||
| NM_001006657.2:c.1183A>T MANE Plus Clinical | NP_001006658.1:p.Asn395Tyr | |
| NM_020779.4:c.1183A>T MANE Select | NP_065830.2:p.Asn395Tyr |