Linked Data
ClinVar Variation Id:
2924777
ClinVar RCV Id:
RCV003788479
dbSNP Id:
rs770346971
ExAC:
X:18646545 C / A
gnomAD v2:
X-18646545-C-A
gnomAD v3:
X-18628425-C-A
gnomAD v4:
X-18628425-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18628425C>A , CM000685.2:g.18628425C>A | GRCh38 |
| NC_000023.10:g.18646545C>A , CM000685.1:g.18646545C>A | GRCh37 |
| NC_000023.9:g.18556466C>A | NCBI36 |
| NG_008475.1:g.207821C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.2551C>A MANE Select | ENSP00000485244.1:p.His851Asn | |
| ENST00000674046.1:c.2674C>A | ENSP00000501174.1:p.His892Asn | |
| ENST00000379989.6:c.2551C>A | ENSP00000369325.3:p.His851Asn | |
| ENST00000379996.7:c.2551C>A | ENSP00000369332.3:p.His851Asn | |
| ENST00000623535.1:c.2551C>A | ENSP00000485244.1:p.His851Asn | |
| NM_001037343.1:c.2551C>A | NP_001032420.1:p.His851Asn | |
| NM_003159.2:c.2551C>A | NP_003150.1:p.His851Asn | |
| XM_011545569.1:c.2623C>A | XP_011543871.1:p.His875Asn | |
| XM_011545570.1:c.2542C>A | XP_011543872.1:p.His848Asn | |
| XR_950484.1:n.2926C>A | ||
| NM_001323289.1:c.2551C>A | NP_001310218.1:p.His851Asn | |
| NM_001323289.2:c.2551C>A MANE Select | NP_001310218.1:p.His851Asn | |
| NM_001037343.2:c.2551C>A | NP_001032420.1:p.His851Asn | |
| NM_003159.3:c.2551C>A | NP_003150.1:p.His851Asn |