Linked Data
dbSNP Id:
rs757977439
ExAC:
1:19404477 A / G
gnomAD v2:
1-19404477-A-G
gnomAD v3:
1-19077983-A-G
gnomAD v4:
1-19077983-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19077983A>G , CM000663.2:g.19077983A>G | GRCh38 |
| NC_000001.10:g.19404477A>G , CM000663.1:g.19404477A>G | GRCh37 |
| NC_000001.9:g.19277064A>G | NCBI36 |
| NG_027669.1:g.137270T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15317T>C MANE Select | ENSP00000364403.3:p.Met5106Thr | |
| ENST00000375224.1:c.2438T>C | ENSP00000364372.1:p.Met813Thr | |
| ENST00000375225.7:c.542T>C | ENSP00000364373.3:p.Met181Thr | |
| ENST00000375254.7:c.15317T>C | ENSP00000364403.3:p.Met5106Thr | |
| ENST00000459947.5:n.3324T>C | ||
| NM_020765.2:c.15317T>C | NP_065816.2:p.Met5106Thr | |
| XM_011541108.1:c.15470T>C | XP_011539410.1:p.Met5157Thr | |
| XM_011541109.1:c.15467T>C | XP_011539411.1:p.Met5156Thr | |
| XM_011541110.1:c.15467T>C | XP_011539412.1:p.Met5156Thr | |
| XM_011541111.1:c.15467T>C | XP_011539413.1:p.Met5156Thr | |
| XM_011541112.1:c.15455T>C | XP_011539414.1:p.Met5152Thr | |
| XM_011541113.1:c.15452T>C | XP_011539415.1:p.Met5151Thr | |
| XM_011541114.1:c.15452T>C | XP_011539416.1:p.Met5151Thr | |
| XM_011541115.1:c.15446T>C | XP_011539417.1:p.Met5149Thr | |
| XM_011541116.1:c.15437T>C | XP_011539418.1:p.Met5146Thr | |
| XM_011541117.1:c.15386T>C | XP_011539419.1:p.Met5129Thr | |
| XM_011541118.1:c.15383T>C | XP_011539420.1:p.Met5128Thr | |
| XM_011541119.1:c.15350T>C | XP_011539421.1:p.Met5117Thr | |
| XM_011541120.1:c.15347T>C | XP_011539422.1:p.Met5116Thr | |
| XM_011541121.1:c.15314T>C | XP_011539423.1:p.Met5105Thr | |
| XM_011541108.3:c.15584T>C | XP_011539410.2:p.Met5195Thr | |
| XM_011541109.3:c.15581T>C | XP_011539411.2:p.Met5194Thr | |
| XM_011541110.3:c.15581T>C | XP_011539412.2:p.Met5194Thr | |
| XM_011541111.3:c.15581T>C | XP_011539413.2:p.Met5194Thr | |
| XM_011541112.3:c.15569T>C | XP_011539414.2:p.Met5190Thr | |
| XM_011541113.3:c.15566T>C | XP_011539415.2:p.Met5189Thr | |
| XM_011541114.3:c.15566T>C | XP_011539416.2:p.Met5189Thr | |
| XM_011541115.3:c.15560T>C | XP_011539417.2:p.Met5187Thr | |
| XM_011541116.3:c.15551T>C | XP_011539418.2:p.Met5184Thr | |
| XM_011541117.3:c.15500T>C | XP_011539419.2:p.Met5167Thr | |
| XM_011541118.3:c.15497T>C | XP_011539420.2:p.Met5166Thr | |
| XM_011541119.3:c.15464T>C | XP_011539421.2:p.Met5155Thr | |
| XM_011541120.3:c.15461T>C | XP_011539422.2:p.Met5154Thr | |
| XM_011541121.3:c.15428T>C | XP_011539423.2:p.Met5143Thr | |
| XM_017000822.2:c.15563T>C | XP_016856311.2:p.Met5188Thr | |
| XM_017000823.2:c.15536T>C | XP_016856312.2:p.Met5179Thr | |
| XM_017000824.2:c.15482T>C | XP_016856313.2:p.Met5161Thr | |
| XM_017000825.2:c.15467T>C | XP_016856314.2:p.Met5156Thr | |
| XM_017000826.2:c.15464T>C | XP_016856315.2:p.Met5155Thr | |
| XM_017000827.2:c.15449T>C | XP_016856316.2:p.Met5150Thr | |
| XM_017000828.2:c.15425T>C | XP_016856317.2:p.Met5142Thr | |
| XM_017000829.2:c.15377T>C | XP_016856318.2:p.Met5126Thr | |
| XM_017000830.2:c.15326T>C | XP_016856319.2:p.Met5109Thr | |
| NM_020765.3:c.15317T>C MANE Select | NP_065816.2:p.Met5106Thr |