Linked Data
dbSNP Id:
rs555362742
gnomAD v2:
12-6643899-C-T
gnomAD v3:
12-6534733-C-T
gnomAD v4:
12-6534733-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6534733C>T , CM000674.2:g.6534733C>T | GRCh38 |
| NC_000012.11:g.6643899C>T , CM000674.1:g.6643899C>T | GRCh37 |
| NC_000012.10:g.6514160C>T | NCBI36 |
| NG_007073.2:g.5243C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229239.10:c.-23-77C>T MANE Select | ENSP00000229239.5:n.-23-77C>T | |
| ENST00000229239.9:c.-23-77C>T | ENSP00000229239.5:n.-23-77C>T | |
| ENST00000396856.5:c.-275-77C>T | ENSP00000380065.1:n.-275-77C>T | |
| ENST00000396861.5:c.-24+72C>T | ENSP00000380070.1:n.-24+72C>T | |
| ENST00000474249.5:n.30-77C>T | ||
| ENST00000492719.5:n.38-77C>T | ||
| ENST00000496049.1:n.59-77C>T | ||
| NM_001289745.1:c.-24+72C>T | NP_001276674.1:n.-24+72C>T | |
| NM_001289746.1:c.-100C>T | NP_001276675.1:n.-100C>T | |
| NM_002046.5:c.-23-77C>T | NP_002037.2:n.-23-77C>T | |
| NM_001289745.2:c.-24+72C>T | NP_001276674.1:n.-24+72C>T | |
| NM_001357943.1:c.-23-77C>T | NP_001344872.1:n.-23-77C>T | |
| NM_002046.6:c.-23-77C>T | NP_002037.2:n.-23-77C>T | |
| NR_152150.1:n.54-77C>T | ||
| NM_002046.7:c.-23-77C>T MANE Select | NP_002037.2:n.-23-77C>T | |
| NM_001289745.3:c.-24+72C>T | NP_001276674.1:n.-24+72C>T | |
| NM_001289746.2:c.-100C>T | NP_001276675.1:n.-100C>T | |
| NM_001357943.2:c.-23-77C>T | NP_001344872.1:n.-23-77C>T | |
| NR_152150.2:n.54-77C>T |