Linked Data
ClinVar Variation Id:
656380
dbSNP Id:
rs373084451
ExAC:
2:32449692 T / G
gnomAD v2:
2-32449692-T-G
gnomAD v3:
2-32224623-T-G
gnomAD v4:
2-32224623-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32224623T>G , CM000664.2:g.32224623T>G | GRCh38 |
| NC_000002.11:g.32449692T>G , CM000664.1:g.32449692T>G | GRCh37 |
| NC_000002.10:g.32303196T>G | NCBI36 |
| NG_041780.1:g.46121A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.618A>C | ENSP00000498301.2:p.Lys206Asn | |
| ENST00000402280.6:c.2925A>C MANE Select | ENSP00000385428.1:p.Lys975Asn | |
| ENST00000404025.3:c.*631A>C | ENSP00000385090.3:n.*631A>C | |
| ENST00000652197.1:c.*655A>C | ENSP00000498301.1:n.*655A>C | |
| ENST00000342905.10:c.930A>C | ENSP00000339666.6:p.Lys310Asn | |
| ENST00000360906.9:c.2925A>C | ENSP00000354159.5:p.Lys975Asn | |
| ENST00000402280.5:c.2925A>C | ENSP00000385428.1:p.Lys975Asn | |
| ENST00000404025.2:c.2925A>C | ENSP00000385090.2:p.Lys975Asn | |
| NM_001199138.1:c.2925A>C | NP_001186067.1:p.Lys975Asn | |
| NM_001199139.1:c.2925A>C | NP_001186068.1:p.Lys975Asn | |
| NM_001302504.1:c.930A>C | NP_001289433.1:p.Lys310Asn | |
| NM_021209.4:c.2925A>C | NP_067032.3:p.Lys975Asn | |
| NM_001199138.2:c.2925A>C MANE Select | NP_001186067.1:p.Lys975Asn |