Linked Data
dbSNP Id:
rs1557459482
gnomAD v4:
1-19077997-A-G
MyVariant Identifiers:
chr1:g.19404491A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19077997A>G , CM000663.2:g.19077997A>G | GRCh38 |
| NC_000001.10:g.19404491A>G , CM000663.1:g.19404491A>G | GRCh37 |
| NC_000001.9:g.19277078A>G | NCBI36 |
| NG_027669.1:g.137256T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15303T>C MANE Select | ENSP00000364403.3:p.Asp5101= | |
| ENST00000375224.1:c.2424T>C | ENSP00000364372.1:p.Asp808= | |
| ENST00000375225.7:c.528T>C | ENSP00000364373.3:p.Asp176= | |
| ENST00000375254.7:c.15303T>C | ENSP00000364403.3:p.Asp5101= | |
| ENST00000459947.5:n.3310T>C | ||
| NM_020765.2:c.15303T>C | NP_065816.2:p.Asp5101= | |
| XM_011541108.1:c.15456T>C | XP_011539410.1:p.Asp5152= | |
| XM_011541109.1:c.15453T>C | XP_011539411.1:p.Asp5151= | |
| XM_011541110.1:c.15453T>C | XP_011539412.1:p.Asp5151= | |
| XM_011541111.1:c.15453T>C | XP_011539413.1:p.Asp5151= | |
| XM_011541112.1:c.15441T>C | XP_011539414.1:p.Asp5147= | |
| XM_011541113.1:c.15438T>C | XP_011539415.1:p.Asp5146= | |
| XM_011541114.1:c.15438T>C | XP_011539416.1:p.Asp5146= | |
| XM_011541115.1:c.15432T>C | XP_011539417.1:p.Asp5144= | |
| XM_011541116.1:c.15423T>C | XP_011539418.1:p.Asp5141= | |
| XM_011541117.1:c.15372T>C | XP_011539419.1:p.Asp5124= | |
| XM_011541118.1:c.15369T>C | XP_011539420.1:p.Asp5123= | |
| XM_011541119.1:c.15336T>C | XP_011539421.1:p.Asp5112= | |
| XM_011541120.1:c.15333T>C | XP_011539422.1:p.Asp5111= | |
| XM_011541121.1:c.15300T>C | XP_011539423.1:p.Asp5100= | |
| XM_011541108.3:c.15570T>C | XP_011539410.2:p.Asp5190= | |
| XM_011541109.3:c.15567T>C | XP_011539411.2:p.Asp5189= | |
| XM_011541110.3:c.15567T>C | XP_011539412.2:p.Asp5189= | |
| XM_011541111.3:c.15567T>C | XP_011539413.2:p.Asp5189= | |
| XM_011541112.3:c.15555T>C | XP_011539414.2:p.Asp5185= | |
| XM_011541113.3:c.15552T>C | XP_011539415.2:p.Asp5184= | |
| XM_011541114.3:c.15552T>C | XP_011539416.2:p.Asp5184= | |
| XM_011541115.3:c.15546T>C | XP_011539417.2:p.Asp5182= | |
| XM_011541116.3:c.15537T>C | XP_011539418.2:p.Asp5179= | |
| XM_011541117.3:c.15486T>C | XP_011539419.2:p.Asp5162= | |
| XM_011541118.3:c.15483T>C | XP_011539420.2:p.Asp5161= | |
| XM_011541119.3:c.15450T>C | XP_011539421.2:p.Asp5150= | |
| XM_011541120.3:c.15447T>C | XP_011539422.2:p.Asp5149= | |
| XM_011541121.3:c.15414T>C | XP_011539423.2:p.Asp5138= | |
| XM_017000822.2:c.15549T>C | XP_016856311.2:p.Asp5183= | |
| XM_017000823.2:c.15522T>C | XP_016856312.2:p.Asp5174= | |
| XM_017000824.2:c.15468T>C | XP_016856313.2:p.Asp5156= | |
| XM_017000825.2:c.15453T>C | XP_016856314.2:p.Asp5151= | |
| XM_017000826.2:c.15450T>C | XP_016856315.2:p.Asp5150= | |
| XM_017000827.2:c.15435T>C | XP_016856316.2:p.Asp5145= | |
| XM_017000828.2:c.15411T>C | XP_016856317.2:p.Asp5137= | |
| XM_017000829.2:c.15363T>C | XP_016856318.2:p.Asp5121= | |
| XM_017000830.2:c.15312T>C | XP_016856319.2:p.Asp5104= | |
| NM_020765.3:c.15303T>C MANE Select | NP_065816.2:p.Asp5101= |