Linked Data
dbSNP Id:
rs778587026
ExAC:
1:151378623 C / A
gnomAD v2:
1-151378623-C-A
gnomAD v4:
1-151406147-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151406147C>A , CM000663.2:g.151406147C>A | GRCh38 |
| NC_000001.10:g.151378623C>A , CM000663.1:g.151378623C>A | GRCh37 |
| NC_000001.9:g.149645247C>A | NCBI36 |
| NG_046601.1:g.58319G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710270.1:c.2936G>T | ENSP00000518163.1:p.Gly979Val | |
| ENST00000392723.6:c.2729G>T | ENSP00000376484.1:p.Gly910Val | |
| ENST00000439756.2:c.2888G>T | ENSP00000390156.2:p.Gly963Val | |
| ENST00000703168.1:c.2909G>T | ENSP00000515214.1:p.Gly970Val | |
| ENST00000271715.7:c.2888G>T MANE Select | ENSP00000271715.2:p.Gly963Val | |
| ENST00000271715.6:c.2888G>T | ENSP00000271715.2:p.Gly963Val | |
| ENST00000358476.7:n.3036G>T | ||
| ENST00000368863.6:c.2603G>T | ENSP00000357856.2:p.Gly868Val | |
| ENST00000392723.5:c.2729G>T | ENSP00000376484.1:p.Gly910Val | |
| ENST00000409503.5:c.2861G>T | ENSP00000386836.1:p.Gly954Val | |
| ENST00000491586.5:c.2756G>T | ENSP00000418408.1:p.Gly919Val | |
| ENST00000531094.5:c.2702G>T | ENSP00000431259.1:p.Gly901Val | |
| NM_001194937.1:c.2861G>T | NP_001181866.1:p.Gly954Val | |
| NM_001194938.1:c.2702G>T | NP_001181867.1:p.Gly901Val | |
| NM_015100.3:c.2888G>T | NP_055915.2:p.Gly963Val | |
| NM_145796.3:c.2603G>T | NP_665739.3:p.Gly868Val | |
| NM_207171.2:c.2729G>T | NP_997054.1:p.Gly910Val | |
| XM_005244999.1:c.2888G>T | XP_005245056.1:p.Gly963Val | |
| XM_005245000.3:c.2888G>T | XP_005245057.1:p.Gly963Val | |
| XM_005245001.1:c.2888G>T | XP_005245058.1:p.Gly963Val | |
| XM_005245005.1:c.2729G>T | XP_005245062.1:p.Gly910Val | |
| XM_005245006.3:c.2729G>T | XP_005245063.1:p.Gly910Val | |
| XM_011509330.1:c.2780G>T | XP_011507632.1:p.Gly927Val | |
| XM_011509331.1:c.2531G>T | XP_011507633.1:p.Gly844Val | |
| XM_005244999.3:c.2888G>T | XP_005245056.1:p.Gly963Val | |
| XM_005245000.4:c.2888G>T | XP_005245057.1:p.Gly963Val | |
| XM_005245001.2:c.2888G>T | XP_005245058.1:p.Gly963Val | |
| XM_005245005.2:c.2729G>T | XP_005245062.1:p.Gly910Val | |
| XM_005245006.5:c.2729G>T | XP_005245063.1:p.Gly910Val | |
| XM_017000744.1:c.2909G>T | XP_016856233.1:p.Gly970Val | |
| XM_017000745.2:c.2861G>T | XP_016856234.1:p.Gly954Val | |
| XM_017000746.1:c.2861G>T | XP_016856235.1:p.Gly954Val | |
| XM_017000748.1:c.2729G>T | XP_016856237.1:p.Gly910Val | |
| XM_017000749.1:c.2729G>T | XP_016856238.1:p.Gly910Val | |
| XM_024454305.1:c.2762G>T | XP_024310073.1:p.Gly921Val | |
| XM_024454306.1:c.1688G>T | XP_024310074.1:p.Gly563Val | |
| XR_002959801.1:n.2743G>T | ||
| NM_015100.4:c.2888G>T MANE Select | NP_055915.2:p.Gly963Val | |
| NM_001194937.2:c.2861G>T | NP_001181866.1:p.Gly954Val | |
| NM_001194938.2:c.2702G>T | NP_001181867.1:p.Gly901Val | |
| NM_145796.4:c.2603G>T | NP_665739.3:p.Gly868Val |