Linked Data
dbSNP Id:
rs201857241
gnomAD v2:
12-7083496-T-G
gnomAD v3:
12-6974334-T-G
gnomAD v4:
12-6974334-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6974334T>G , CM000674.2:g.6974334T>G | GRCh38 |
| NC_000012.11:g.7083496T>G , CM000674.1:g.7083496T>G | GRCh37 |
| NC_000012.10:g.6953757T>G | NCBI36 |
| NG_021408.1:g.8554T>G | |
| NG_021408.2:g.8554T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599672.6:c.169-5T>G MANE Select | ENSP00000470560.1:n.169-5T>G | |
| ENST00000261406.7:c.151-5T>G | ENSP00000476966.2:n.151-5T>G | |
| ENST00000539196.2:c.32-5T>G | ||
| ENST00000599672.5:c.169-5T>G | ENSP00000470560.1:n.169-5T>G | |
| ENST00000607161.5:c.172-5T>G | ENSP00000480420.1:n.172-5T>G | |
| ENST00000611981.1:n.180-5T>G | ||
| ENST00000620255.1:n.158-5T>G | ||
| NM_006331.7:c.169-5T>G | NP_006322.4:n.169-5T>G | |
| XM_011520907.1:c.169-5T>G | XP_011519209.1:n.169-5T>G | |
| NM_001320049.1:c.169-5T>G | NP_001306978.1:n.169-5T>G | |
| NR_135131.1:n.312-5T>G | ||
| NM_006331.8:c.169-5T>G MANE Select | NP_006322.4:n.169-5T>G | |
| NM_001320049.2:c.169-5T>G | NP_001306978.1:n.169-5T>G | |
| NR_135131.2:n.180-5T>G |