Linked Data
ClinVar Variation Id:
213913
dbSNP Id:
rs138262219
ExAC:
3:30664762 C / A
gnomAD v2:
3-30664762-C-A
gnomAD v3:
3-30623270-C-A
gnomAD v4:
3-30623270-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30623270C>A , CM000665.2:g.30623270C>A | GRCh38 |
| NC_000003.11:g.30664762C>A , CM000665.1:g.30664762C>A | GRCh37 |
| NC_000003.10:g.30639766C>A | NCBI36 |
| NG_007490.1:g.21769C>A , LRG_779:g.21769C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.94+16293C>A MANE Select | ENSP00000295754.5:n.94+16293C>A | |
| ENST00000673250.1:n.215C>A | ||
| ENST00000295754.9:c.94+16293C>A | ENSP00000295754.5:n.94+16293C>A | |
| ENST00000359013.4:c.166C>A | ENSP00000351905.4:p.His56Asn | |
| NM_001024847.2:c.166C>A , LRG_779t1:c.166C>A | NP_001020018.1:p.His56Asn | |
| NM_003242.5:c.94+16293C>A | NP_003233.4:n.94+16293C>A | |
| XM_011534043.1:c.118C>A | XP_011532345.1:p.His40Asn | |
| XM_011534044.1:c.46+8564C>A | XP_011532346.1:n.46+8564C>A | |
| XM_011534045.1:c.-12+16677C>A | XP_011532347.1:n.-12+16677C>A | |
| XM_011534043.2:c.118C>A | XP_011532345.1:p.His40Asn | |
| XM_011534045.3:c.-12+16677C>A | XP_011532347.1:n.-12+16677C>A | |
| NM_003242.6:c.94+16293C>A MANE Select | NP_003233.4:n.94+16293C>A |