Linked Data
dbSNP Id:
rs286595
gnomAD v2:
5-154348552-C-T
gnomAD v3:
5-154968992-C-T
gnomAD v4:
5-154968992-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154968992C>T , CM000667.2:g.154968992C>T | GRCh38 |
| NC_000005.9:g.154348552C>T , CM000667.1:g.154348552C>T | GRCh37 |
| NC_000005.8:g.154328745C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000523037.6:c.*2095C>T MANE Select | ENSP00000431040.1:n.*2095C>T | |
| ENST00000265229.12:c.*2095C>T | ENSP00000265229.8:n.*2095C>T | |
| ENST00000522038.5:c.*2095C>T | ENSP00000429039.1:n.*2095C>T | |
| ENST00000523037.5:c.*2095C>T | ENSP00000431040.1:n.*2095C>T | |
| NM_001014990.2:c.*2095C>T | NP_001014990.1:n.*2095C>T | |
| NM_014180.3:c.*2095C>T | NP_054899.2:n.*2095C>T | |
| NM_014180.4:c.*2095C>T MANE Select | NP_054899.2:n.*2095C>T | |
| NM_001014990.3:c.*2095C>T | NP_001014990.1:n.*2095C>T |