Linked Data
dbSNP Id:
rs139872335
ExAC:
1:19404480 T / C
gnomAD v2:
1-19404480-T-C
gnomAD v3:
1-19077986-T-C
gnomAD v4:
1-19077986-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19077986T>C , CM000663.2:g.19077986T>C | GRCh38 |
| NC_000001.10:g.19404480T>C , CM000663.1:g.19404480T>C | GRCh37 |
| NC_000001.9:g.19277067T>C | NCBI36 |
| NG_027669.1:g.137267A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15314A>G MANE Select | ENSP00000364403.3:p.Asn5105Ser | |
| ENST00000375224.1:c.2435A>G | ENSP00000364372.1:p.Asn812Ser | |
| ENST00000375225.7:c.539A>G | ENSP00000364373.3:p.Asn180Ser | |
| ENST00000375254.7:c.15314A>G | ENSP00000364403.3:p.Asn5105Ser | |
| ENST00000459947.5:n.3321A>G | ||
| NM_020765.2:c.15314A>G | NP_065816.2:p.Asn5105Ser | |
| XM_011541108.1:c.15467A>G | XP_011539410.1:p.Asn5156Ser | |
| XM_011541109.1:c.15464A>G | XP_011539411.1:p.Asn5155Ser | |
| XM_011541110.1:c.15464A>G | XP_011539412.1:p.Asn5155Ser | |
| XM_011541111.1:c.15464A>G | XP_011539413.1:p.Asn5155Ser | |
| XM_011541112.1:c.15452A>G | XP_011539414.1:p.Asn5151Ser | |
| XM_011541113.1:c.15449A>G | XP_011539415.1:p.Asn5150Ser | |
| XM_011541114.1:c.15449A>G | XP_011539416.1:p.Asn5150Ser | |
| XM_011541115.1:c.15443A>G | XP_011539417.1:p.Asn5148Ser | |
| XM_011541116.1:c.15434A>G | XP_011539418.1:p.Asn5145Ser | |
| XM_011541117.1:c.15383A>G | XP_011539419.1:p.Asn5128Ser | |
| XM_011541118.1:c.15380A>G | XP_011539420.1:p.Asn5127Ser | |
| XM_011541119.1:c.15347A>G | XP_011539421.1:p.Asn5116Ser | |
| XM_011541120.1:c.15344A>G | XP_011539422.1:p.Asn5115Ser | |
| XM_011541121.1:c.15311A>G | XP_011539423.1:p.Asn5104Ser | |
| XM_011541108.3:c.15581A>G | XP_011539410.2:p.Asn5194Ser | |
| XM_011541109.3:c.15578A>G | XP_011539411.2:p.Asn5193Ser | |
| XM_011541110.3:c.15578A>G | XP_011539412.2:p.Asn5193Ser | |
| XM_011541111.3:c.15578A>G | XP_011539413.2:p.Asn5193Ser | |
| XM_011541112.3:c.15566A>G | XP_011539414.2:p.Asn5189Ser | |
| XM_011541113.3:c.15563A>G | XP_011539415.2:p.Asn5188Ser | |
| XM_011541114.3:c.15563A>G | XP_011539416.2:p.Asn5188Ser | |
| XM_011541115.3:c.15557A>G | XP_011539417.2:p.Asn5186Ser | |
| XM_011541116.3:c.15548A>G | XP_011539418.2:p.Asn5183Ser | |
| XM_011541117.3:c.15497A>G | XP_011539419.2:p.Asn5166Ser | |
| XM_011541118.3:c.15494A>G | XP_011539420.2:p.Asn5165Ser | |
| XM_011541119.3:c.15461A>G | XP_011539421.2:p.Asn5154Ser | |
| XM_011541120.3:c.15458A>G | XP_011539422.2:p.Asn5153Ser | |
| XM_011541121.3:c.15425A>G | XP_011539423.2:p.Asn5142Ser | |
| XM_017000822.2:c.15560A>G | XP_016856311.2:p.Asn5187Ser | |
| XM_017000823.2:c.15533A>G | XP_016856312.2:p.Asn5178Ser | |
| XM_017000824.2:c.15479A>G | XP_016856313.2:p.Asn5160Ser | |
| XM_017000825.2:c.15464A>G | XP_016856314.2:p.Asn5155Ser | |
| XM_017000826.2:c.15461A>G | XP_016856315.2:p.Asn5154Ser | |
| XM_017000827.2:c.15446A>G | XP_016856316.2:p.Asn5149Ser | |
| XM_017000828.2:c.15422A>G | XP_016856317.2:p.Asn5141Ser | |
| XM_017000829.2:c.15374A>G | XP_016856318.2:p.Asn5125Ser | |
| XM_017000830.2:c.15323A>G | XP_016856319.2:p.Asn5108Ser | |
| NM_020765.3:c.15314A>G MANE Select | NP_065816.2:p.Asn5105Ser |