Linked Data
dbSNP Id:
rs147280944
ExAC:
12:6644000 T / C
gnomAD v3:
12-6534834-T-C
gnomAD v4:
12-6534834-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6534834T>C , CM000674.2:g.6534834T>C | GRCh38 |
| NC_000012.11:g.6644000T>C , CM000674.1:g.6644000T>C | GRCh37 |
| NC_000012.10:g.6514261T>C | NCBI36 |
| NG_007073.2:g.5344T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229239.10:c.2T>C MANE Select | ENSP00000229239.5:p.Met1Thr | |
| ENST00000229239.9:c.2T>C | ENSP00000229239.5:p.Met1Thr | |
| ENST00000396856.5:c.-251T>C | ENSP00000380065.1:n.-251T>C | |
| ENST00000396859.5:c.2T>C | ENSP00000380068.1:p.Met1Thr | |
| ENST00000396861.5:c.2T>C | ENSP00000380070.1:p.Met1Thr | |
| ENST00000466525.1:n.43T>C | ||
| ENST00000466588.5:n.81T>C | ||
| ENST00000474249.5:n.54T>C | ||
| ENST00000492719.5:n.62T>C | ||
| ENST00000496049.1:n.83T>C | ||
| NM_001289745.1:c.2T>C | NP_001276674.1:p.Met1Thr | |
| NM_001289746.1:c.2T>C | NP_001276675.1:p.Met1Thr | |
| NM_002046.5:c.2T>C | NP_002037.2:p.Met1Thr | |
| NM_001289745.2:c.2T>C | NP_001276674.1:p.Met1Thr | |
| NM_001357943.1:c.2T>C | NP_001344872.1:p.Met1Thr | |
| NM_002046.6:c.2T>C | NP_002037.2:p.Met1Thr | |
| NR_152150.1:n.78T>C | ||
| NM_002046.7:c.2T>C MANE Select | NP_002037.2:p.Met1Thr | |
| NM_001289745.3:c.2T>C | NP_001276674.1:p.Met1Thr | |
| NM_001289746.2:c.2T>C | NP_001276675.1:p.Met1Thr | |
| NM_001357943.2:c.2T>C | NP_001344872.1:p.Met1Thr | |
| NR_152150.2:n.78T>C |