Linked Data
ClinVar Variation Id:
246062
ClinVar RCV Id:
RCV000416078
RCV001114470
RCV001085919
RCV001172800
RCV001564019
RCV002321906
RCV003919998
dbSNP Id:
rs141894081
ExAC:
11:9861210 G / T
gnomAD v2:
11-9861210-G-T
gnomAD v3:
11-9839663-G-T
gnomAD v4:
11-9839663-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9839663G>T , CM000673.2:g.9839663G>T | GRCh38 |
| NC_000011.9:g.9861210G>T , CM000673.1:g.9861210G>T | GRCh37 |
| NC_000011.8:g.9817786G>T | NCBI36 |
| NG_008074.1:g.459545C>A , LRG_267:g.459545C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420722.3:c.1994C>A | ENSP00000410478.3:p.Thr665Asn | |
| ENST00000530741.2:c.1994C>A | ENSP00000432643.2:p.Thr665Asn | |
| ENST00000533770.6:c.3290C>A | ENSP00000509247.1:p.Thr1097Asn | |
| ENST00000675281.2:c.3290C>A | ENSP00000502491.1:p.Thr1097Asn | |
| ENST00000676324.2:c.3290C>A | ENSP00000502578.1:p.Thr1097Asn | |
| ENST00000676387.2:c.3176C>A | ENSP00000502779.1:p.Thr1059Asn | |
| ENST00000688344.1:c.2897C>A | ENSP00000509987.1:p.Thr966Asn | |
| ENST00000689128.1:c.3290C>A | ENSP00000509587.1:p.Thr1097Asn | |
| ENST00000689258.1:c.3152C>A | ENSP00000510475.1:p.Thr1051Asn | |
| ENST00000689356.1:n.461C>A | ||
| ENST00000689597.1:c.1994C>A | ENSP00000510781.1:p.Thr665Asn | |
| ENST00000689674.1:c.2184C>A | ENSP00000510723.1:n.2184C>A | |
| ENST00000689940.1:c.3284C>A | ENSP00000508452.1:p.Thr1095Asn | |
| ENST00000690003.1:c.2089C>A | ENSP00000508748.1:n.2089C>A | |
| ENST00000692716.1:c.3161C>A | ENSP00000509545.1:p.Thr1054Asn | |
| ENST00000693181.1:c.1994C>A | ENSP00000510179.1:p.Thr665Asn | |
| ENST00000256190.13:c.3290C>A MANE Select | ENSP00000256190.8:p.Thr1097Asn | |
| ENST00000675281.1:c.3290C>A | ENSP00000502491.1:p.Thr1097Asn | |
| ENST00000676324.1:c.3290C>A | ENSP00000502578.1:p.Thr1097Asn | |
| ENST00000676387.1:c.3176C>A | ENSP00000502779.1:p.Thr1059Asn | |
| ENST00000256190.12:c.3290C>A | ENSP00000256190.8:p.Thr1097Asn | |
| ENST00000533770.5:n.3205C>A | ||
| ENST00000617179.4:c.3149C>A | ENSP00000482806.1:p.Thr1050Asn | |
| NM_030962.3:c.3290C>A , LRG_267t1:c.3290C>A | NP_112224.1:p.Thr1097Asn | |
| NR_120539.1:n.135+387G>T | ||
| XM_005253154.3:c.3290C>A | XP_005253211.1:p.Thr1097Asn | |
| XM_005253155.3:c.3161C>A | XP_005253212.1:p.Thr1054Asn | |
| XM_011520394.1:c.3176C>A | XP_011518696.1:p.Thr1059Asn | |
| XM_011520395.1:c.3290C>A | XP_011518697.1:p.Thr1097Asn | |
| XM_011520396.1:c.3290C>A | XP_011518698.1:p.Thr1097Asn | |
| XM_005253154.5:c.3290C>A | XP_005253211.1:p.Thr1097Asn | |
| XM_005253155.5:c.3161C>A | XP_005253212.1:p.Thr1054Asn | |
| XM_011520394.3:c.3176C>A | XP_011518696.1:p.Thr1059Asn | |
| XM_011520395.3:c.3290C>A | XP_011518697.1:p.Thr1097Asn | |
| XM_011520396.3:c.3290C>A | XP_011518698.1:p.Thr1097Asn | |
| XM_017018372.2:c.3152C>A | XP_016873861.1:p.Thr1051Asn | |
| XM_017018373.2:c.3152C>A | XP_016873862.1:p.Thr1051Asn | |
| XM_017018374.2:c.3161C>A | XP_016873863.1:p.Thr1054Asn | |
| XM_017018375.2:c.3290C>A | XP_016873864.1:p.Thr1097Asn | |
| XM_017018376.2:c.3290C>A | XP_016873865.1:p.Thr1097Asn | |
| XR_001747994.2:n.3428C>A | ||
| NM_001386339.1:c.3290C>A | NP_001373268.1:p.Thr1097Asn | |
| NM_001386342.1:c.3161C>A | NP_001373271.1:p.Thr1054Asn | |
| NM_030962.4:c.3290C>A MANE Select | NP_112224.1:p.Thr1097Asn |