Linked Data
dbSNP Id:
rs374046008
ExAC:
4:52894288 C / T
gnomAD v2:
4-52894288-C-T
gnomAD v3:
4-52028122-C-T
gnomAD v4:
4-52028122-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028122C>T , CM000666.2:g.52028122C>T | GRCh38 |
| NC_000004.11:g.52894288C>T , CM000666.1:g.52894288C>T | GRCh37 |
| NC_000004.10:g.52589045C>T | NCBI36 |
| NG_008891.1:g.15198G>A , LRG_204:g.15198G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.622-23G>A MANE Select | ENSP00000370839.6:n.622-23G>A | |
| ENST00000381431.9:c.622-23G>A | ENSP00000370839.5:n.622-23G>A | |
| NM_000232.4:c.622-23G>A , LRG_204t1:c.622-23G>A | NP_000223.1:n.622-23G>A | |
| XM_006714049.2:c.325-23G>A | XP_006714112.1:n.325-23G>A | |
| XM_011534403.1:c.412-23G>A | XP_011532705.1:n.412-23G>A | |
| XM_011534404.1:c.325-23G>A | XP_011532706.1:n.325-23G>A | |
| NM_000232.5:c.622-23G>A MANE Select | NP_000223.1:n.622-23G>A |