Linked Data
ClinVar Variation Id:
2890914
ClinVar RCV Id:
RCV003722707
MyVariant Identifiers:
chr10:g.74167754T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72407996T>C , CM000672.2:g.72407996T>C | GRCh38 |
| NC_000010.10:g.74167754T>C , CM000672.1:g.74167754T>C | GRCh37 |
| NC_000010.9:g.73837760T>C | NCBI36 |
| NG_033179.1:g.223196A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361114.10:c.1113A>G MANE Select | ENSP00000354415.5:p.Leu371= | |
| ENST00000642044.1:c.1131A>G | ENSP00000493232.1:p.Leu377= | |
| ENST00000361114.9:c.1113A>G | ENSP00000354415.5:p.Leu371= | |
| ENST00000398761.8:c.1119A>G | ENSP00000381745.5:p.Leu373= | |
| ENST00000398763.8:c.519A>G | ENSP00000381747.4:p.Leu173= | |
| ENST00000418483.6:c.519A>G | ENSP00000402470.2:p.Leu173= | |
| ENST00000476605.7:c.640A>G | ||
| ENST00000635239.1:c.1125A>G | ENSP00000489563.1:p.Leu375= | |
| NM_001195518.1:c.1113A>G | NP_001182447.1:p.Leu371= | |
| NM_001195519.1:c.519A>G | NP_001182448.1:p.Leu173= | |
| NM_006077.3:c.1119A>G | NP_006068.2:p.Leu373= | |
| XM_005269383.1:c.1131A>G | XP_005269440.1:p.Leu377= | |
| XM_005269384.1:c.1125A>G | XP_005269441.1:p.Leu375= | |
| XM_005269386.1:c.429A>G | XP_005269443.1:p.Leu143= | |
| XM_011539119.1:c.1281A>G | XP_011537421.1:p.Leu427= | |
| XR_945585.1:n.1368A>G | ||
| XR_945586.1:n.1200A>G | ||
| NM_001363513.1:c.1131A>G | NP_001350442.1:p.Leu377= | |
| XM_005269386.2:c.429A>G | XP_005269443.1:p.Leu143= | |
| XR_001746993.2:n.1369A>G | ||
| XR_001746994.2:n.1207A>G | ||
| XR_945586.2:n.1201A>G | ||
| NM_001195518.2:c.1113A>G MANE Select | NP_001182447.1:p.Leu371= | |
| NM_001195519.2:c.519A>G | NP_001182448.1:p.Leu173= | |
| NM_001363513.2:c.1131A>G | NP_001350442.1:p.Leu377= | |
| NM_006077.4:c.1119A>G | NP_006068.2:p.Leu373= |