Linked Data
dbSNP Id:
rs767098538
ExAC:
10:96826986 C / T
gnomAD v2:
10-96826986-C-T
gnomAD v3:
10-95067229-C-T
gnomAD v4:
10-95067229-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95067229C>T , CM000672.2:g.95067229C>T | GRCh38 |
| NC_000010.10:g.96826986C>T , CM000672.1:g.96826986C>T | GRCh37 |
| NC_000010.9:g.96816976C>T | NCBI36 |
| NG_007972.1:g.7269G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.460G>A MANE Select | ENSP00000360317.3:p.Glu154Lys | |
| ENST00000371270.5:c.460G>A | ENSP00000360317.3:p.Glu154Lys | |
| ENST00000479946.2:n.764G>A | ||
| ENST00000490994.6:c.*246G>A | ENSP00000433314.1:n.*246G>A | |
| ENST00000525991.5:c.*35G>A | ENSP00000433842.1:n.*35G>A | |
| ENST00000526814.5:n.715G>A | ||
| ENST00000527420.5:c.460G>A | ENSP00000433191.1:p.Glu154Lys | |
| ENST00000527953.5:n.715G>A | ||
| ENST00000533320.5:n.694G>A | ||
| ENST00000535898.5:c.154G>A | ENSP00000445062.1:p.Glu52Lys | |
| ENST00000539050.5:c.250G>A | ENSP00000442343.2:p.Glu84Lys | |
| ENST00000623108.3:c.250G>A | ENSP00000485110.1:p.Glu84Lys | |
| ENST00000628935.1:c.202G>A | ENSP00000487145.1:p.Glu68Lys | |
| NM_000770.3:c.460G>A MANE Select | NP_000761.3:p.Glu154Lys | |
| NM_001198853.1:c.250G>A | NP_001185782.1:p.Glu84Lys | |
| NM_001198854.1:c.154G>A | NP_001185783.1:p.Glu52Lys | |
| NM_001198855.1:c.250G>A | NP_001185784.1:p.Glu84Lys | |
| XR_945610.1:n.556G>A |