Linked Data
dbSNP Id:
rs11465959
gnomAD v2:
12-66605054-C-T
gnomAD v3:
12-66211274-C-T
gnomAD v4:
12-66211274-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66211274C>T , CM000674.2:g.66211274C>T | GRCh38 |
| NC_000012.11:g.66605054C>T , CM000674.1:g.66605054C>T | GRCh37 |
| NC_000012.10:g.64891321C>T | NCBI36 |
| NG_021194.1:g.27077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261233.9:c.437-172C>T MANE Select | ENSP00000261233.4:n.437-172C>T | |
| ENST00000261233.8:c.437-172C>T | ENSP00000261233.4:n.437-172C>T | |
| ENST00000457197.2:c.254-172C>T | ENSP00000409852.2:n.254-172C>T | |
| NM_001142523.1:c.254-172C>T | NP_001135995.1:n.254-172C>T | |
| NM_007199.2:c.437-172C>T | NP_009130.2:n.437-172C>T | |
| NM_001142523.2:c.254-172C>T | NP_001135995.1:n.254-172C>T | |
| NM_007199.3:c.437-172C>T MANE Select | NP_009130.2:n.437-172C>T |