Linked Data
ClinVar Variation Id:
2903579
ClinVar RCV Id:
RCV003634090
gnomAD v4:
15-80180199-C-T
MyVariant Identifiers:
chr15:g.80472541C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80180199C>T , CM000677.2:g.80180199C>T | GRCh38 |
| NC_000015.9:g.80472541C>T , CM000677.1:g.80472541C>T | GRCh37 |
| NC_000015.8:g.78259596C>T | NCBI36 |
| NG_012833.1:g.32201C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.1125C>T | ||
| ENST00000561421.6:c.1036C>T MANE Select | ENSP00000453347.2:p.Leu346= | |
| ENST00000646551.1:n.2650C>T | ||
| ENST00000261755.9:c.1036C>T | ENSP00000261755.5:p.Leu346= | |
| ENST00000407106.5:c.1036C>T | ENSP00000385080.1:p.Leu346= | |
| ENST00000539156.5:c.826C>T | ENSP00000454271.1:p.Leu276= | |
| ENST00000559217.1:n.253C>T | ||
| ENST00000561353.2:c.134C>T | ||
| ENST00000561421.5:c.1036C>T | ENSP00000453347.1:p.Leu346= | |
| NM_000137.2:c.1036C>T | NP_000128.1:p.Leu346= | |
| XM_024449872.1:c.1036C>T | XP_024305640.1:p.Leu346= | |
| NM_000137.4:c.1036C>T MANE Select | NP_000128.1:p.Leu346= | |
| NM_001374377.1:c.1036C>T | NP_001361306.1:p.Leu346= | |
| NM_001374380.1:c.1036C>T | NP_001361309.1:p.Leu346= |