Linked Data
dbSNP Id:
rs750204574
ExAC:
7:143021596 G / T
gnomAD v2:
7-143021596-G-T
gnomAD v3:
7-143324503-G-T
gnomAD v4:
7-143324503-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143324503G>T , CM000669.2:g.143324503G>T | GRCh38 |
| NC_000007.13:g.143021596G>T , CM000669.1:g.143021596G>T | GRCh37 |
| NC_000007.12:g.142731718G>T | NCBI36 |
| NG_009815.1:g.13378G>T | |
| NG_009815.2:g.13378G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.853+606G>T | ENSP00000498052.2:n.853+606G>T | |
| ENST00000343257.7:c.853+11G>T MANE Select | ENSP00000339867.2:n.853+11G>T | |
| ENST00000432192.6:c.677+11G>T | ||
| ENST00000455478.6:c.441+11G>T | ENSP00000400027.2:n.441+11G>T | |
| ENST00000650516.1:c.853+606G>T | ENSP00000498052.1:n.853+606G>T | |
| ENST00000343257.6:c.853+11G>T | ENSP00000339867.2:n.853+11G>T | |
| ENST00000432192.5:c.367+11G>T | ||
| ENST00000455478.5:c.445+11G>T | ||
| ENST00000495612.1:n.154+2655G>T | ||
| NM_000083.2:c.853+11G>T | NP_000074.2:n.853+11G>T | |
| NR_046453.1:n.943+11G>T | ||
| XM_011515781.1:c.853+606G>T | XP_011514083.1:n.853+606G>T | |
| XM_017011739.1:c.403+2655G>T | XP_016867228.1:n.403+2655G>T | |
| XM_017011740.1:c.403+2655G>T | XP_016867229.1:n.403+2655G>T | |
| NM_000083.3:c.853+11G>T MANE Select | NP_000074.3:n.853+11G>T | |
| NR_046453.2:n.958+11G>T |