Linked Data
ClinVar Variation Id:
6951
ClinVar RCV Id:
RCV000007366
dbSNP Id:
rs121908966
PubMed:
PMID:9603736
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18145929A>T , CM000679.2:g.18145929A>T | GRCh38 |
| NC_000017.10:g.18049243A>T , CM000679.1:g.18049243A>T | GRCh37 |
| NC_000017.9:g.17989968A>T | NCBI36 |
| NG_011634.1:g.42224A>T | |
| NG_011634.2:g.42224A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647165.2:c.6331A>T MANE Select | ENSP00000495481.1:p.Asn2111Tyr | |
| ENST00000205890.9:c.6331A>T | ENSP00000205890.5:p.Asn2111Tyr | |
| ENST00000615845.4:c.6331A>T | ENSP00000481642.1:p.Asn2111Tyr | |
| NM_016239.3:c.6331A>T | NP_057323.3:p.Asn2111Tyr | |
| XM_011523917.1:c.6271A>T | XP_011522219.1:p.Asn2091Tyr | |
| XM_011523918.1:c.6271A>T | XP_011522220.1:p.Asn2091Tyr | |
| XM_011523921.1:c.6325A>T | XP_011522223.1:p.Asn2109Tyr | |
| XR_934037.1:n.6930A>T | ||
| XR_934038.1:n.6930A>T | ||
| XM_011523918.2:c.6271A>T | XP_011522220.1:p.Asn2091Tyr | |
| XM_017024714.2:c.6271A>T | XP_016880203.1:p.Asn2091Tyr | |
| XM_017024715.2:c.6334A>T | XP_016880204.1:p.Asn2112Tyr | |
| XM_024450781.1:c.6213+1337A>T | XP_024306549.1:n.6213+1337A>T | |
| NM_016239.4:c.6331A>T MANE Select | NP_057323.3:p.Asn2111Tyr |