Linked Data
dbSNP Id:
rs751229590
ExAC:
4:47408882 G / T
gnomAD v2:
4-47408882-G-T
gnomAD v4:
4-47406865-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406865G>T , CM000666.2:g.47406865G>T | GRCh38 |
| NC_000004.11:g.47408882G>T , CM000666.1:g.47408882G>T | GRCh37 |
| NC_000004.10:g.47103639G>T | NCBI36 |
| NG_051831.1:g.380588G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.1019G>T MANE Select | ENSP00000295454.3:p.Gly340Val | |
| ENST00000295454.7:c.1019G>T | ENSP00000295454.3:p.Gly340Val | |
| NM_000812.3:c.1019G>T | NP_000803.2:p.Gly340Val | |
| XM_011513678.1:c.998G>T | XP_011511980.1:p.Gly333Val | |
| XM_017007985.1:c.368G>T | XP_016863474.1:p.Gly123Val | |
| XM_024453976.1:c.920G>T | XP_024309744.1:p.Gly307Val | |
| XM_024453977.1:c.920G>T | XP_024309745.1:p.Gly307Val | |
| XM_024453978.1:c.920G>T | XP_024309746.1:p.Gly307Val | |
| NM_000812.4:c.1019G>T MANE Select | NP_000803.2:p.Gly340Val |