Linked Data
ClinVar Variation Id:
2943936
ClinVar RCV Id:
RCV003803494
MyVariant Identifiers:
chr15:g.48796135G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48503938G>A , CM000677.2:g.48503938G>A | GRCh38 |
| NC_000015.9:g.48796135G>A , CM000677.1:g.48796135G>A | GRCh37 |
| NC_000015.8:g.46583427G>A | NCBI36 |
| NG_008805.2:g.146851C>T , LRG_778:g.146851C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.1962C>T | ENSP00000453958.2:p.Asp654= | |
| ENST00000674301.2:c.1962C>T | ENSP00000501333.2:p.Asp654= | |
| ENST00000684448.1:n.636C>T | ||
| ENST00000316623.10:c.1962C>T MANE Select | ENSP00000325527.5:p.Asp654= | |
| ENST00000316623.9:c.1962C>T | ENSP00000325527.5:p.Asp654= | |
| ENST00000537463.6:c.637-29288C>T | ENSP00000440294.2:n.637-29288C>T | |
| NM_000138.4:c.1962C>T , LRG_778t1:c.1962C>T | NP_000129.3:p.Asp654= | |
| NM_000138.5:c.1962C>T MANE Select | NP_000129.3:p.Asp654= |