Linked Data
dbSNP Id:
rs753397550
ExAC:
7:94055738 C / T
gnomAD v2:
7-94055738-C-T
gnomAD v3:
7-94426426-C-T
gnomAD v4:
7-94426426-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426426C>T , CM000669.2:g.94426426C>T | GRCh38 |
| NC_000007.13:g.94055738C>T , CM000669.1:g.94055738C>T | GRCh37 |
| NC_000007.12:g.93893674C>T | NCBI36 |
| NG_007405.1:g.36866C>T , LRG_2:g.36866C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3001C>T MANE Select | ENSP00000297268.6:p.Pro1001Ser | |
| ENST00000297268.10:c.3001C>T | ENSP00000297268.6:p.Pro1001Ser | |
| ENST00000478215.1:n.560C>T | ||
| ENST00000481570.5:n.2974C>T | ||
| ENST00000620463.1:c.2995C>T | ENSP00000477719.1:p.Pro999Ser | |
| NM_000089.3:c.3001C>T , LRG_2t1:c.3001C>T | NP_000080.2:p.Pro1001Ser | |
| NM_000089.4:c.3001C>T MANE Select | NP_000080.2:p.Pro1001Ser |