Linked Data
dbSNP Id:
rs1053667
gnomAD v2:
14-45543038-T-C
gnomAD v3:
14-45073835-T-C
gnomAD v4:
14-45073835-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45073835T>C , CM000676.2:g.45073835T>C | GRCh38 |
| NC_000014.8:g.45543038T>C , CM000676.1:g.45543038T>C | GRCh37 |
| NC_000014.7:g.44612788T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361462.7:c.*274T>C MANE Select | ENSP00000354917.2:n.*274T>C | |
| ENST00000361462.6:c.*274T>C | ENSP00000354917.2:n.*274T>C | |
| ENST00000361577.7:c.*274T>C | ENSP00000355045.3:n.*274T>C | |
| ENST00000557423.5:c.*2439T>C | ENSP00000451829.1:n.*2439T>C | |
| NM_001308120.1:c.*274T>C | NP_001295049.1:n.*274T>C | |
| NM_015091.2:c.*274T>C | NP_055906.2:n.*274T>C | |
| NM_015091.3:c.*274T>C | NP_055906.2:n.*274T>C | |
| NR_131765.1:n.5659T>C | ||
| XM_011536571.1:c.*579T>C | XP_011534873.1:n.*579T>C | |
| XM_017021098.1:c.*274T>C | XP_016876587.1:n.*274T>C | |
| XM_017021099.1:c.*274T>C | XP_016876588.1:n.*274T>C | |
| XR_001750194.1:n.5923T>C | ||
| XR_001750195.1:n.5566T>C | ||
| NM_001308120.2:c.*274T>C MANE Select | NP_001295049.1:n.*274T>C | |
| NM_015091.4:c.*274T>C | NP_055906.2:n.*274T>C | |
| NR_131765.2:n.5659T>C |