Linked Data
dbSNP Id:
rs1012268397
gnomAD v2:
7-143021358-C-T
gnomAD v3:
7-143324265-C-T
gnomAD v4:
7-143324265-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143324265C>T , CM000669.2:g.143324265C>T | GRCh38 |
| NC_000007.13:g.143021358C>T , CM000669.1:g.143021358C>T | GRCh37 |
| NC_000007.12:g.142731480C>T | NCBI36 |
| NG_009815.1:g.13140C>T | |
| NG_009815.2:g.13140C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.853+368C>T | ENSP00000498052.2:n.853+368C>T | |
| ENST00000343257.7:c.775-149C>T MANE Select | ENSP00000339867.2:n.775-149C>T | |
| ENST00000432192.6:c.599-149C>T | ||
| ENST00000455478.6:c.363-149C>T | ENSP00000400027.2:n.363-149C>T | |
| ENST00000650516.1:c.853+368C>T | ENSP00000498052.1:n.853+368C>T | |
| ENST00000343257.6:c.775-149C>T | ENSP00000339867.2:n.775-149C>T | |
| ENST00000432192.5:c.289-149C>T | ||
| ENST00000455478.5:c.367-149C>T | ||
| ENST00000495612.1:n.154+2417C>T | ||
| NM_000083.2:c.775-149C>T | NP_000074.2:n.775-149C>T | |
| NR_046453.1:n.862-146C>T | ||
| XM_011515781.1:c.853+368C>T | XP_011514083.1:n.853+368C>T | |
| XM_017011739.1:c.403+2417C>T | XP_016867228.1:n.403+2417C>T | |
| XM_017011740.1:c.403+2417C>T | XP_016867229.1:n.403+2417C>T | |
| NM_000083.3:c.775-149C>T MANE Select | NP_000074.3:n.775-149C>T | |
| NR_046453.2:n.877-146C>T |