Linked Data
ClinVar Variation Id:
2114417
ClinVar RCV Id:
RCV003042775
MyVariant Identifiers:
chr11:g.9225664T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9204117T>A , CM000673.2:g.9204117T>A | GRCh38 |
| NC_000011.9:g.9225664T>A , CM000673.1:g.9225664T>A | GRCh37 |
| NC_000011.8:g.9182240T>A | NCBI36 |
| NG_053019.1:g.66219A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.492A>T MANE Select | ENSP00000328524.3:p.Leu164= | |
| ENST00000530780.2:c.*318A>T | ENSP00000433925.1:n.*318A>T | |
| ENST00000530867.2:n.281A>T | ||
| ENST00000532696.2:n.415A>T | ||
| ENST00000679446.1:n.413A>T | ||
| ENST00000679460.1:n.281A>T | ||
| ENST00000679568.1:c.492A>T | ENSP00000505860.1:p.Leu164= | |
| ENST00000679745.1:n.281A>T | ||
| ENST00000679999.1:c.492A>T | ENSP00000505198.1:p.Leu164= | |
| ENST00000680252.1:c.281A>T | ||
| ENST00000680294.1:c.492A>T | ENSP00000506113.1:p.Leu164= | |
| ENST00000680470.1:c.492A>T | ENSP00000505975.1:p.Leu164= | |
| ENST00000680554.1:c.204A>T | ENSP00000505621.1:p.Leu68= | |
| ENST00000680576.1:n.281A>T | ||
| ENST00000680599.1:n.409A>T | ||
| ENST00000680742.1:c.492A>T | ENSP00000505206.1:p.Leu164= | |
| ENST00000680885.1:n.413A>T | ||
| ENST00000681158.1:c.281A>T | ||
| ENST00000681173.1:n.281A>T | ||
| ENST00000681203.1:c.420A>T | ENSP00000506456.1:p.Leu140= | |
| ENST00000681425.1:n.413A>T | ||
| ENST00000681915.1:n.281A>T | ||
| ENST00000328194.7:c.492A>T | ENSP00000328524.3:p.Leu164= | |
| ENST00000526707.5:c.420A>T | ENSP00000436780.1:p.Leu140= | |
| ENST00000530044.5:c.492A>T | ENSP00000435866.1:p.Leu164= | |
| ENST00000530780.1:c.*318A>T | ENSP00000433925.1:n.*318A>T | |
| ENST00000532696.1:n.247A>T | ||
| NM_001243254.1:c.492A>T | NP_001230183.1:p.Leu164= | |
| NM_015213.3:c.492A>T | NP_056028.2:p.Leu164= | |
| XM_005252832.1:c.492A>T | XP_005252889.1:p.Leu164= | |
| XM_011519952.1:c.492A>T | XP_011518254.1:p.Leu164= | |
| XR_242782.2:n.757A>T | ||
| XR_930851.1:n.757A>T | ||
| XR_930852.1:n.757A>T | ||
| XR_930853.1:n.757A>T | ||
| NM_001348749.1:c.420A>T | NP_001335678.1:p.Leu140= | |
| NM_001348750.1:c.204A>T | NP_001335679.1:p.Leu68= | |
| NR_145966.2:n.749A>T | ||
| NM_015213.4:c.492A>T MANE Select | NP_056028.2:p.Leu164= | |
| NM_001243254.2:c.492A>T | NP_001230183.1:p.Leu164= | |
| NM_001348749.2:c.420A>T | NP_001335678.1:p.Leu140= | |
| NM_001348750.2:c.204A>T | NP_001335679.1:p.Leu68= |