Linked Data
ClinVar Variation Id:
311270
dbSNP Id:
rs5961
ExAC:
13:113783785 G / C
gnomAD v2:
13-113783785-G-C
gnomAD v3:
13-113129471-G-C
gnomAD v4:
13-113129471-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113129471G>C , CM000675.2:g.113129471G>C | GRCh38 |
| NC_000013.10:g.113783785G>C , CM000675.1:g.113783785G>C | GRCh37 |
| NC_000013.9:g.112831786G>C | NCBI36 |
| NG_009258.1:g.11673G>C , LRG_548:g.11673G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.90G>C (F10) MANE Select | ENSP00000364709.3:p.Gln30His | |
| ENST00000375551.7:c.90G>C (F10) | ENSP00000364701.3:p.Gln30His | |
| ENST00000375559.7:c.90G>C (F10) | ENSP00000364709.3:p.Gln30His | |
| ENST00000409306.5:c.90G>C (F10) | ENSP00000387092.1:p.Gln30His | |
| ENST00000410083.6:c.90G>C (F10) | ENSP00000386320.2:p.Gln30His | |
| ENST00000477269.5:n.127G>C (F10) | ||
| ENST00000483537.1:n.110G>C (F10) | ||
| NM_000504.3:c.90G>C , LRG_548t1:c.90G>C (F10) | NP_000495.1:p.Gln30His | |
| NM_001312674.1:c.90G>C (F10) | NP_001299603.1:p.Gln30His | |
| NM_001312675.1:c.90G>C (F10) | NP_001299604.1:p.Gln30His | |
| NR_126424.1:n.41+535C>G (F10-AS1) | ||
| NM_000504.4:c.90G>C (F10) MANE Select | NP_000495.1:p.Gln30His | |
| NM_001312674.2:c.90G>C (F10) | NP_001299603.1:p.Gln30His | |
| NM_001312675.2:c.90G>C (F10) | NP_001299604.1:p.Gln30His |