Linked Data
dbSNP Id:
rs202131936
ExAC:
9:27204927 G / T
gnomAD v2:
9-27204927-G-T
gnomAD v3:
9-27204929-G-T
gnomAD v4:
9-27204929-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27204929G>T , CM000671.2:g.27204929G>T | GRCh38 |
| NC_000009.11:g.27204927G>T , CM000671.1:g.27204927G>T | GRCh37 |
| NC_000009.10:g.27194927G>T | NCBI36 |
| NG_011828.1:g.100781G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380036.10:c.2228G>T MANE Select | ENSP00000369375.4:p.Gly743Val | |
| ENST00000380036.8:c.2228G>T | ENSP00000369375.4:p.Gly743Val | |
| ENST00000406359.8:c.2099G>T | ENSP00000383977.4:p.Gly700Val | |
| ENST00000519097.5:c.1787G>T | ENSP00000430686.1:p.Gly596Val | |
| ENST00000615002.4:c.*729G>T | ENSP00000480251.1:n.*729G>T | |
| NM_000459.4:c.2228G>T | NP_000450.2:p.Gly743Val | |
| NM_001290077.1:c.2099G>T | NP_001277006.1:p.Gly700Val | |
| NM_001290078.1:c.1787G>T | NP_001277007.1:p.Gly596Val | |
| XM_005251561.1:c.2228G>T | XP_005251618.1:p.Gly743Val | |
| XM_005251563.1:c.2099G>T | XP_005251620.1:p.Gly700Val | |
| XM_005251561.2:c.2228G>T | XP_005251618.1:p.Gly743Val | |
| XM_005251563.2:c.2099G>T | XP_005251620.1:p.Gly700Val | |
| NM_000459.5:c.2228G>T MANE Select | NP_000450.3:p.Gly743Val | |
| NM_001375475.1:c.2228G>T | NP_001362404.1:p.Gly743Val | |
| NM_001375476.1:c.2099G>T | NP_001362405.1:p.Gly700Val |