Linked Data
dbSNP Id:
rs758541445
ExAC:
4:52899560 C / A
gnomAD v2:
4-52899560-C-A
gnomAD v3:
4-52033394-C-A
gnomAD v4:
4-52033394-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033394C>A , CM000666.2:g.52033394C>A | GRCh38 |
| NC_000004.11:g.52899560C>A , CM000666.1:g.52899560C>A | GRCh37 |
| NC_000004.10:g.52594317C>A | NCBI36 |
| NG_008891.1:g.9926G>T , LRG_204:g.9926G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.243+37G>T MANE Select | ENSP00000370839.6:n.243+37G>T | |
| ENST00000381431.9:c.243+37G>T | ENSP00000370839.5:n.243+37G>T | |
| ENST00000506357.5:c.229+37G>T | ||
| ENST00000514133.1:c.210+37G>T | ENSP00000425818.1:n.210+37G>T | |
| NM_000232.4:c.243+37G>T , LRG_204t1:c.243+37G>T | NP_000223.1:n.243+37G>T | |
| XM_006714049.2:c.-165+37G>T | XP_006714112.1:n.-165+37G>T | |
| XM_011534403.1:c.34-3531G>T | XP_011532705.1:n.34-3531G>T | |
| XM_011534404.1:c.-142+37G>T | XP_011532706.1:n.-142+37G>T | |
| NM_000232.5:c.243+37G>T MANE Select | NP_000223.1:n.243+37G>T |