Linked Data
ClinVar Variation Id:
1537372
ClinVar RCV Id:
RCV002166942
dbSNP Id:
rs2142098208
gnomAD v4:
15-80168280-T-C
MyVariant Identifiers:
chr15:g.80460622T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80168280T>C , CM000677.2:g.80168280T>C | GRCh38 |
| NC_000015.9:g.80460622T>C , CM000677.1:g.80460622T>C | GRCh37 |
| NC_000015.8:g.78247677T>C | NCBI36 |
| NG_012833.1:g.20282T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.759T>C | ||
| ENST00000684569.1:n.615T>C | ||
| ENST00000561421.6:c.570T>C MANE Select | ENSP00000453347.2:p.Tyr190= | |
| ENST00000646551.1:n.2197T>C | ||
| ENST00000261755.9:c.570T>C | ENSP00000261755.5:p.Tyr190= | |
| ENST00000407106.5:c.570T>C | ENSP00000385080.1:p.Tyr190= | |
| ENST00000539156.5:c.360T>C | ENSP00000454271.1:p.Tyr120= | |
| ENST00000558514.1:n.116T>C | ||
| ENST00000558627.1:n.498T>C | ||
| ENST00000561421.5:c.570T>C | ENSP00000453347.1:p.Tyr190= | |
| NM_000137.2:c.570T>C | NP_000128.1:p.Tyr190= | |
| XM_024449872.1:c.570T>C | XP_024305640.1:p.Tyr190= | |
| NM_000137.4:c.570T>C MANE Select | NP_000128.1:p.Tyr190= | |
| NM_001374377.1:c.570T>C | NP_001361306.1:p.Tyr190= | |
| NM_001374380.1:c.570T>C | NP_001361309.1:p.Tyr190= |