Linked Data
dbSNP Id:
rs11572080
ExAC:
10:96827030 C / T
gnomAD v2:
10-96827030-C-T
gnomAD v3:
10-95067273-C-T
gnomAD v4:
10-95067273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95067273C>T , CM000672.2:g.95067273C>T | GRCh38 |
| NC_000010.10:g.96827030C>T , CM000672.1:g.96827030C>T | GRCh37 |
| NC_000010.9:g.96817020C>T | NCBI36 |
| NG_007972.1:g.7225G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371270.6:c.416G>A MANE Select | ENSP00000360317.3:p.Arg139Lys | |
| ENST00000371270.5:c.416G>A | ENSP00000360317.3:p.Arg139Lys | |
| ENST00000479946.2:n.720G>A | ||
| ENST00000490994.6:c.*202G>A | ENSP00000433314.1:n.*202G>A | |
| ENST00000525991.5:c.291G>A | ENSP00000433842.1:p.Glu97= | |
| ENST00000526814.5:n.671G>A | ||
| ENST00000527420.5:c.416G>A | ENSP00000433191.1:p.Arg139Lys | |
| ENST00000527953.5:n.671G>A | ||
| ENST00000533320.5:n.650G>A | ||
| ENST00000535898.5:c.110G>A | ENSP00000445062.1:p.Arg37Lys | |
| ENST00000539050.5:c.206G>A | ENSP00000442343.2:p.Arg69Lys | |
| ENST00000623108.3:c.206G>A | ENSP00000485110.1:p.Arg69Lys | |
| ENST00000628935.1:c.158G>A | ENSP00000487145.1:p.Arg53Lys | |
| NM_000770.3:c.416G>A MANE Select | NP_000761.3:p.Arg139Lys | |
| NM_001198853.1:c.206G>A | NP_001185782.1:p.Arg69Lys | |
| NM_001198854.1:c.110G>A | NP_001185783.1:p.Arg37Lys | |
| NM_001198855.1:c.206G>A | NP_001185784.1:p.Arg69Lys | |
| XR_945610.1:n.512G>A |