Linked Data
dbSNP Id:
rs1370418540
gnomAD v2:
7-150883616-G-A
gnomAD v3:
7-151186529-G-A
gnomAD v4:
7-151186529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186529G>A , CM000669.2:g.151186529G>A | GRCh38 |
| NC_000007.13:g.150883616G>A , CM000669.1:g.150883616G>A | GRCh37 |
| NC_000007.12:g.150514549G>A | NCBI36 |
| NG_017016.1:g.6304C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.447C>T MANE Select | ENSP00000391137.2:p.Arg149= | |
| ENST00000275838.5:c.447C>T | ENSP00000275838.1:p.Arg149= | |
| ENST00000377867.7:c.402C>T | ENSP00000367098.3:p.Arg134= | |
| ENST00000420175.2:c.447C>T | ENSP00000391137.2:p.Arg149= | |
| NM_001142459.1:c.447C>T | NP_001135931.2:p.Arg149= | |
| NM_001142460.1:c.447C>T | NP_001135932.2:p.Arg149= | |
| NM_080871.3:c.402C>T | NP_543147.2:p.Arg134= | |
| XM_005249949.3:c.582C>T | XP_005250006.1:p.Arg194= | |
| NM_001142459.2:c.447C>T MANE Select | NP_001135931.2:p.Arg149= | |
| NM_080871.4:c.402C>T | NP_543147.2:p.Arg134= |