Linked Data
dbSNP Id:
rs199473543
ExAC:
7:150644465 G / T
gnomAD v2:
7-150644465-G-T
gnomAD v4:
7-150947377-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947377G>T , CM000669.2:g.150947377G>T | GRCh38 |
| NC_000007.13:g.150644465G>T , CM000669.1:g.150644465G>T | GRCh37 |
| NC_000007.12:g.150275398G>T | NCBI36 |
| NG_008916.1:g.35550C>A , LRG_288:g.35550C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3936C>A | ||
| ENST00000262186.10:c.3103C>A MANE Select | ENSP00000262186.5:p.Arg1035= | |
| ENST00000330883.9:c.2083C>A | ENSP00000328531.4:p.Arg695= | |
| ENST00000262186.9:c.3103C>A | ENSP00000262186.5:p.Arg1035= | |
| ENST00000330883.8:c.2083C>A | ENSP00000328531.4:p.Arg695= | |
| NM_000238.3:c.3103C>A , LRG_288t1:c.3103C>A | NP_000229.1:p.Arg1035= | |
| NM_172057.2:c.2083C>A , LRG_288t3:c.2083C>A | NP_742054.1:p.Arg695= | |
| XM_011516185.1:c.2803C>A | XP_011514487.1:p.Arg935= | |
| XM_011516185.2:c.2803C>A | XP_011514487.1:p.Arg935= | |
| XM_017012195.1:c.2953C>A | XP_016867684.1:p.Arg985= | |
| XM_017012196.1:c.2926C>A | XP_016867685.1:p.Arg976= | |
| NM_000238.4:c.3103C>A MANE Select | NP_000229.1:p.Arg1035= | |
| NM_172057.3:c.2083C>A | NP_742054.1:p.Arg695= |