Linked Data
dbSNP Id:
rs781223779
ExAC:
1:19404493 C / T
gnomAD v2:
1-19404493-C-T
gnomAD v3:
1-19077999-C-T
gnomAD v4:
1-19077999-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19077999C>T , CM000663.2:g.19077999C>T | GRCh38 |
| NC_000001.10:g.19404493C>T , CM000663.1:g.19404493C>T | GRCh37 |
| NC_000001.9:g.19277080C>T | NCBI36 |
| NG_027669.1:g.137254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15301G>A MANE Select | ENSP00000364403.3:p.Asp5101Asn | |
| ENST00000375224.1:c.2422G>A | ENSP00000364372.1:p.Asp808Asn | |
| ENST00000375225.7:c.526G>A | ENSP00000364373.3:p.Asp176Asn | |
| ENST00000375254.7:c.15301G>A | ENSP00000364403.3:p.Asp5101Asn | |
| ENST00000459947.5:n.3308G>A | ||
| NM_020765.2:c.15301G>A | NP_065816.2:p.Asp5101Asn | |
| XM_011541108.1:c.15454G>A | XP_011539410.1:p.Asp5152Asn | |
| XM_011541109.1:c.15451G>A | XP_011539411.1:p.Asp5151Asn | |
| XM_011541110.1:c.15451G>A | XP_011539412.1:p.Asp5151Asn | |
| XM_011541111.1:c.15451G>A | XP_011539413.1:p.Asp5151Asn | |
| XM_011541112.1:c.15439G>A | XP_011539414.1:p.Asp5147Asn | |
| XM_011541113.1:c.15436G>A | XP_011539415.1:p.Asp5146Asn | |
| XM_011541114.1:c.15436G>A | XP_011539416.1:p.Asp5146Asn | |
| XM_011541115.1:c.15430G>A | XP_011539417.1:p.Asp5144Asn | |
| XM_011541116.1:c.15421G>A | XP_011539418.1:p.Asp5141Asn | |
| XM_011541117.1:c.15370G>A | XP_011539419.1:p.Asp5124Asn | |
| XM_011541118.1:c.15367G>A | XP_011539420.1:p.Asp5123Asn | |
| XM_011541119.1:c.15334G>A | XP_011539421.1:p.Asp5112Asn | |
| XM_011541120.1:c.15331G>A | XP_011539422.1:p.Asp5111Asn | |
| XM_011541121.1:c.15298G>A | XP_011539423.1:p.Asp5100Asn | |
| XM_011541108.3:c.15568G>A | XP_011539410.2:p.Asp5190Asn | |
| XM_011541109.3:c.15565G>A | XP_011539411.2:p.Asp5189Asn | |
| XM_011541110.3:c.15565G>A | XP_011539412.2:p.Asp5189Asn | |
| XM_011541111.3:c.15565G>A | XP_011539413.2:p.Asp5189Asn | |
| XM_011541112.3:c.15553G>A | XP_011539414.2:p.Asp5185Asn | |
| XM_011541113.3:c.15550G>A | XP_011539415.2:p.Asp5184Asn | |
| XM_011541114.3:c.15550G>A | XP_011539416.2:p.Asp5184Asn | |
| XM_011541115.3:c.15544G>A | XP_011539417.2:p.Asp5182Asn | |
| XM_011541116.3:c.15535G>A | XP_011539418.2:p.Asp5179Asn | |
| XM_011541117.3:c.15484G>A | XP_011539419.2:p.Asp5162Asn | |
| XM_011541118.3:c.15481G>A | XP_011539420.2:p.Asp5161Asn | |
| XM_011541119.3:c.15448G>A | XP_011539421.2:p.Asp5150Asn | |
| XM_011541120.3:c.15445G>A | XP_011539422.2:p.Asp5149Asn | |
| XM_011541121.3:c.15412G>A | XP_011539423.2:p.Asp5138Asn | |
| XM_017000822.2:c.15547G>A | XP_016856311.2:p.Asp5183Asn | |
| XM_017000823.2:c.15520G>A | XP_016856312.2:p.Asp5174Asn | |
| XM_017000824.2:c.15466G>A | XP_016856313.2:p.Asp5156Asn | |
| XM_017000825.2:c.15451G>A | XP_016856314.2:p.Asp5151Asn | |
| XM_017000826.2:c.15448G>A | XP_016856315.2:p.Asp5150Asn | |
| XM_017000827.2:c.15433G>A | XP_016856316.2:p.Asp5145Asn | |
| XM_017000828.2:c.15409G>A | XP_016856317.2:p.Asp5137Asn | |
| XM_017000829.2:c.15361G>A | XP_016856318.2:p.Asp5121Asn | |
| XM_017000830.2:c.15310G>A | XP_016856319.2:p.Asp5104Asn | |
| NM_020765.3:c.15301G>A MANE Select | NP_065816.2:p.Asp5101Asn |