Linked Data
ClinVar Variation Id:
96568
dbSNP Id:
rs398124565
ExAC:
6:81053429 T / A
gnomAD v2:
6-81053429-T-A
gnomAD v4:
6-80343712-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80343712T>A , CM000668.2:g.80343712T>A | GRCh38 |
| NC_000006.11:g.81053429T>A , CM000668.1:g.81053429T>A | GRCh37 |
| NC_000006.10:g.81110148T>A | NCBI36 |
| NG_009775.1:g.242086T>A | |
| NG_009775.2:g.242086T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.1087T>A MANE Select | ENSP00000318351.5:p.Tyr363Asn | |
| ENST00000320393.8:c.1087T>A | ENSP00000318351.5:p.Tyr363Asn | |
| ENST00000356489.9:c.1087T>A | ENSP00000348880.5:p.Tyr363Asn | |
| ENST00000491328.1:n.142T>A | ||
| NM_000056.3:c.1087T>A | NP_000047.1:p.Tyr363Asn | |
| NM_183050.2:c.1087T>A | NP_898871.1:p.Tyr363Asn | |
| XM_006715542.2:c.877T>A | XP_006715605.1:p.Tyr293Asn | |
| XM_011536024.1:c.*93T>A | XP_011534326.1:n.*93T>A | |
| XM_011536026.1:c.877T>A | XP_011534328.1:p.Tyr293Asn | |
| NM_000056.4:c.1087T>A | NP_000047.1:p.Tyr363Asn | |
| NM_001318975.1:c.877T>A | NP_001305904.1:p.Tyr293Asn | |
| NM_183050.3:c.1087T>A | NP_898871.1:p.Tyr363Asn | |
| NR_134945.1:n.1265T>A | ||
| XM_011536024.3:c.*93T>A | XP_011534326.1:n.*93T>A | |
| XR_001743546.2:n.1068+70491T>A | ||
| XR_001743547.2:n.1068+70491T>A | ||
| XR_001743548.2:n.1068+70491T>A | ||
| XR_001743549.2:n.1068+70491T>A | ||
| XR_002956292.1:n.1068+70491T>A | ||
| NM_183050.4:c.1087T>A MANE Select | NP_898871.1:p.Tyr363Asn | |
| NR_134945.2:n.1204T>A | ||
| NM_000056.5:c.1087T>A | NP_000047.1:p.Tyr363Asn |