Linked Data
ClinVar Variation Id:
2972326
ClinVar RCV Id:
RCV003835452
dbSNP Id:
rs754571538
ExAC:
11:128709359 G / A
gnomAD v2:
11-128709359-G-A
gnomAD v3:
11-128839464-G-A
gnomAD v4:
11-128839464-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839464G>A , CM000673.2:g.128839464G>A | GRCh38 |
| NC_000011.9:g.128709359G>A , CM000673.1:g.128709359G>A | GRCh37 |
| NC_000011.8:g.128214569G>A | NCBI36 |
| NG_009379.1:g.32910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.780C>T MANE Select | ENSP00000376434.1:p.Phe260= | |
| ENST00000324036.7:c.780C>T | ENSP00000316233.3:p.Phe260= | |
| ENST00000392664.2:c.837C>T | ENSP00000376432.2:p.Phe279= | |
| ENST00000392665.6:c.780C>T | ENSP00000376433.2:p.Phe260= | |
| ENST00000392666.5:c.780C>T | ENSP00000376434.1:p.Phe260= | |
| ENST00000440599.6:c.780C>T | ENSP00000406320.2:p.Phe260= | |
| NM_000220.4:c.837C>T | NP_000211.1:p.Phe279= | |
| NM_153764.2:c.780C>T | NP_722448.1:p.Phe260= | |
| NM_153765.2:c.831C>T | NP_722449.3:p.Phe277= | |
| NM_153766.2:c.780C>T | NP_722450.1:p.Phe260= | |
| NM_153767.3:c.780C>T | NP_722451.1:p.Phe260= | |
| NM_000220.6:c.837C>T | NP_000211.1:p.Phe279= | |
| NM_153764.3:c.780C>T | NP_722448.1:p.Phe260= | |
| NM_153765.3:c.831C>T | NP_722449.3:p.Phe277= | |
| NM_153766.3:c.780C>T MANE Select | NP_722450.1:p.Phe260= | |
| NM_153767.4:c.780C>T | NP_722451.1:p.Phe260= |