Linked Data
ClinVar Variation Id:
1629052
ClinVar RCV Id:
RCV002116447
dbSNP Id:
rs2153308626
gnomAD v4:
11-47441862-G-A
MyVariant Identifiers:
chr11:g.47463414G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441862G>A , CM000673.2:g.47441862G>A | GRCh38 |
| NC_000011.9:g.47463414G>A , CM000673.1:g.47463414G>A | GRCh37 |
| NC_000011.8:g.47419990G>A | NCBI36 |
| NG_008312.1:g.12317C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.750C>T MANE Select | ENSP00000298854.2:p.Leu250= | |
| ENST00000298854.6:c.750C>T | ENSP00000298854.2:p.Leu250= | |
| ENST00000352508.7:c.750C>T | ENSP00000298853.3:p.Leu250= | |
| ENST00000524487.5:c.591C>T | ENSP00000435551.2:p.Leu197= | |
| ENST00000529341.1:c.750C>T | ENSP00000431732.1:p.Leu250= | |
| NM_005055.4:c.750C>T | NP_005046.2:p.Leu250= | |
| NM_032645.4:c.750C>T | NP_116034.2:p.Leu250= | |
| XM_005253042.2:c.750C>T | XP_005253099.1:p.Leu250= | |
| XM_005253043.2:c.750C>T | XP_005253100.1:p.Leu250= | |
| XM_011520252.1:c.750C>T | XP_011518554.1:p.Leu250= | |
| XM_011520253.1:c.750C>T | XP_011518555.1:p.Leu250= | |
| XM_005253042.3:c.750C>T | XP_005253099.1:p.Leu250= | |
| XM_005253043.3:c.750C>T | XP_005253100.1:p.Leu250= | |
| NM_005055.5:c.750C>T MANE Select | NP_005046.2:p.Leu250= | |
| NM_032645.5:c.750C>T | NP_116034.2:p.Leu250= |