Linked Data
dbSNP Id:
rs753397550
ExAC:
7:94055738 C / G
gnomAD v2:
7-94055738-C-G
gnomAD v4:
7-94426426-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426426C>G , CM000669.2:g.94426426C>G | GRCh38 |
| NC_000007.13:g.94055738C>G , CM000669.1:g.94055738C>G | GRCh37 |
| NC_000007.12:g.93893674C>G | NCBI36 |
| NG_007405.1:g.36866C>G , LRG_2:g.36866C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3001C>G MANE Select | ENSP00000297268.6:p.Pro1001Ala | |
| ENST00000297268.10:c.3001C>G | ENSP00000297268.6:p.Pro1001Ala | |
| ENST00000478215.1:n.560C>G | ||
| ENST00000481570.5:n.2974C>G | ||
| ENST00000620463.1:c.2995C>G | ENSP00000477719.1:p.Pro999Ala | |
| NM_000089.3:c.3001C>G , LRG_2t1:c.3001C>G | NP_000080.2:p.Pro1001Ala | |
| NM_000089.4:c.3001C>G MANE Select | NP_000080.2:p.Pro1001Ala |