Linked Data
dbSNP Id:
rs1219529173
gnomAD v2:
12-6643904-T-G
gnomAD v3:
12-6534738-T-G
gnomAD v4:
12-6534738-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6534738T>G , CM000674.2:g.6534738T>G | GRCh38 |
| NC_000012.11:g.6643904T>G , CM000674.1:g.6643904T>G | GRCh37 |
| NC_000012.10:g.6514165T>G | NCBI36 |
| NG_007073.2:g.5248T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229239.10:c.-23-72T>G MANE Select | ENSP00000229239.5:n.-23-72T>G | |
| ENST00000229239.9:c.-23-72T>G | ENSP00000229239.5:n.-23-72T>G | |
| ENST00000396856.5:c.-275-72T>G | ENSP00000380065.1:n.-275-72T>G | |
| ENST00000396861.5:c.-23-72T>G | ENSP00000380070.1:n.-23-72T>G | |
| ENST00000474249.5:n.30-72T>G | ||
| ENST00000492719.5:n.38-72T>G | ||
| ENST00000496049.1:n.59-72T>G | ||
| NM_001289745.1:c.-23-72T>G | NP_001276674.1:n.-23-72T>G | |
| NM_001289746.1:c.-95T>G | NP_001276675.1:n.-95T>G | |
| NM_002046.5:c.-23-72T>G | NP_002037.2:n.-23-72T>G | |
| NM_001289745.2:c.-23-72T>G | NP_001276674.1:n.-23-72T>G | |
| NM_001357943.1:c.-23-72T>G | NP_001344872.1:n.-23-72T>G | |
| NM_002046.6:c.-23-72T>G | NP_002037.2:n.-23-72T>G | |
| NR_152150.1:n.54-72T>G | ||
| NM_002046.7:c.-23-72T>G MANE Select | NP_002037.2:n.-23-72T>G | |
| NM_001289745.3:c.-23-72T>G | NP_001276674.1:n.-23-72T>G | |
| NM_001289746.2:c.-95T>G | NP_001276675.1:n.-95T>G | |
| NM_001357943.2:c.-23-72T>G | NP_001344872.1:n.-23-72T>G | |
| NR_152150.2:n.54-72T>G |