Linked Data
ClinVar Variation Id:
408741
ClinVar RCV Id:
RCV003638668
dbSNP Id:
rs777779916
gnomAD v4:
6-123218699-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123218699T>C , CM000668.2:g.123218699T>C | GRCh38 |
| NC_000006.11:g.123539844T>C , CM000668.1:g.123539844T>C | GRCh37 |
| NC_000006.10:g.123581543T>C | NCBI36 |
| NG_030438.1:g.423395A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334268.9:c.2092A>G MANE Select | ENSP00000333984.5:p.Asn698Asp | |
| ENST00000334268.8:c.2092A>G | ENSP00000333984.5:p.Asn698Asp | |
| NM_006073.3:c.2092A>G | NP_006064.2:p.Asn698Asp | |
| XM_011535382.1:c.2011A>G | XP_011533684.1:p.Asn671Asp | |
| NM_006073.4:c.2092A>G MANE Select | NP_006064.2:p.Asn698Asp |