Linked Data
ClinVar Variation Id:
459781
dbSNP Id:
rs770525372
ExAC:
2:189870107 T / A
gnomAD v2:
2-189870107-T-A
gnomAD v4:
2-189005381-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189005381T>A , CM000664.2:g.189005381T>A | GRCh38 |
| NC_000002.11:g.189870107T>A , CM000664.1:g.189870107T>A | GRCh37 |
| NC_000002.10:g.189578352T>A | NCBI36 |
| NG_007404.1:g.36009T>A , LRG_3:g.36009T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2864T>A | ENSP00000415346.2:p.Leu955His | |
| ENST00000304636.9:c.2963T>A MANE Select | ENSP00000304408.4:p.Leu988His | |
| ENST00000304636.7:c.2963T>A | ENSP00000304408.3:p.Leu988His | |
| ENST00000317840.9:c.2527+2345T>A | ENSP00000315243.6:n.2527+2345T>A | |
| NM_000090.3:c.2963T>A , LRG_3t1:c.2963T>A | NP_000081.1:p.Leu988His | |
| NM_000090.4:c.2963T>A MANE Select | NP_000081.2:p.Leu988His |