Linked Data
dbSNP Id:
rs1210063639
gnomAD v2:
20-4957645-T-C
gnomAD v3:
20-4976999-T-C
gnomAD v4:
20-4976999-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4976999T>C , CM000682.2:g.4976999T>C | GRCh38 |
| NC_000020.10:g.4957645T>C , CM000682.1:g.4957645T>C | GRCh37 |
| NC_000020.9:g.4905645T>C | NCBI36 |
| NG_029959.1:g.29501A>G | |
| NG_029959.2:g.38295A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338244.6:c.-281-6080A>G MANE Select | ENSP00000344322.1:n.-281-6080A>G | |
| ENST00000338244.5:c.-281-6080A>G | ENSP00000344322.1:n.-281-6080A>G | |
| ENST00000379333.5:c.-281-6080A>G | ENSP00000368637.1:n.-281-6080A>G | |
| ENST00000468355.5:n.90-6084A>G | ||
| NM_005116.5:c.-281-6080A>G | NP_005107.4:n.-281-6080A>G | |
| NM_203327.1:c.-281-6080A>G | NP_976072.1:n.-281-6080A>G | |
| XM_011529414.1:c.-277-6084A>G | XP_011527716.1:n.-277-6084A>G | |
| XM_011529417.1:c.-155+24407A>G | XP_011527719.1:n.-155+24407A>G | |
| NM_005116.6:c.-281-6080A>G MANE Select | NP_005107.4:n.-281-6080A>G | |
| NM_203327.2:c.-281-6080A>G | NP_976072.1:n.-281-6080A>G |