Linked Data
ClinVar Variation Id:
2064210
ClinVar RCV Id:
RCV002943295
dbSNP Id:
rs34891389
ExAC:
6:24777517 A / C
gnomAD v2:
6-24777517-A-C
gnomAD v3:
6-24777289-A-C
gnomAD v4:
6-24777289-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24777289A>C , CM000668.2:g.24777289A>C | GRCh38 |
| NC_000006.11:g.24777517A>C , CM000668.1:g.24777517A>C | GRCh37 |
| NC_000006.10:g.24885496A>C | NCBI36 |
| NG_030440.1:g.7359A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230056.8:c.43A>C MANE Select | ENSP00000230056.3:p.Asn15His | |
| ENST00000230056.7:c.43A>C | ENSP00000230056.3:p.Asn15His | |
| ENST00000356509.7:c.43A>C | ENSP00000348902.3:p.Asn15His | |
| ENST00000378054.6:c.43A>C | ENSP00000367293.2:p.Asn15His | |
| ENST00000378059.3:c.43A>C | ENSP00000367298.3:p.Asn15His | |
| ENST00000468943.1:n.232A>C | ||
| ENST00000476555.5:c.43A>C | ENSP00000419584.1:p.Asn15His | |
| ENST00000620958.4:c.43A>C | ENSP00000477506.1:p.Asn15His | |
| NM_001251989.1:c.43A>C | NP_001238918.1:p.Asn15His | |
| NM_001251990.1:c.43A>C | NP_001238919.1:p.Asn15His | |
| NM_001251991.1:c.43A>C | NP_001238920.1:p.Asn15His | |
| NM_015895.4:c.43A>C | NP_056979.1:p.Asn15His | |
| XM_005249159.1:c.43A>C | XP_005249216.1:p.Asn15His | |
| XM_005249159.2:c.43A>C | XP_005249216.1:p.Asn15His | |
| NM_015895.5:c.43A>C MANE Select | NP_056979.1:p.Asn15His | |
| NM_001251989.2:c.43A>C | NP_001238918.1:p.Asn15His | |
| NM_001251990.2:c.43A>C | NP_001238919.1:p.Asn15His |