Linked Data
ClinVar Variation Id:
305043
ClinVar RCV Id:
RCV000326236
dbSNP Id:
rs139444835
ExAC:
11:59611390 T / C
gnomAD v2:
11-59611390-T-C
gnomAD v3:
11-59843917-T-C
gnomAD v4:
11-59843917-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59843917T>C , CM000673.2:g.59843917T>C | GRCh38 |
| NC_000011.9:g.59611390T>C , CM000673.1:g.59611390T>C | GRCh37 |
| NC_000011.8:g.59367966T>C | NCBI36 |
| NG_008120.1:g.6585A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257248.3:c.218A>G MANE Select | ENSP00000257248.2:p.Lys73Arg | |
| ENST00000257248.2:c.218A>G | ENSP00000257248.2:p.Lys73Arg | |
| ENST00000525058.5:c.*185A>G | ENSP00000433196.1:n.*185A>G | |
| ENST00000532070.1:n.264A>G | ||
| NM_005142.2:c.218A>G | NP_005133.2:p.Lys73Arg | |
| XM_011544939.1:c.218A>G | XP_011543241.1:p.Lys73Arg | |
| XM_011544939.3:c.218A>G | XP_011543241.1:p.Lys73Arg | |
| NM_005142.3:c.218A>G MANE Select | NP_005133.2:p.Lys73Arg |