Linked Data
dbSNP Id:
rs10823607
ExAC:
10:72500763 T / C
gnomAD v2:
10-72500763-T-C
gnomAD v3:
10-70741007-T-C
gnomAD v4:
10-70741007-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70741007T>C , CM000672.2:g.70741007T>C | GRCh38 |
| NC_000010.10:g.72500763T>C , CM000672.1:g.72500763T>C | GRCh37 |
| NC_000010.9:g.72170769T>C | NCBI36 |
| NG_042147.1:g.73205T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373207.2:c.1769T>C MANE Select | ENSP00000362303.1:p.Leu590Pro | |
| ENST00000373207.1:c.1769T>C | ENSP00000362303.1:p.Leu590Pro | |
| ENST00000373208.5:c.1778T>C | ENSP00000362304.1:p.Leu593Pro | |
| NM_080722.3:c.1769T>C | NP_542453.2:p.Leu590Pro | |
| NM_139155.2:c.1778T>C | NP_631894.2:p.Leu593Pro | |
| XM_011539300.1:c.1778T>C | XP_011537602.1:p.Leu593Pro | |
| XM_011539301.1:c.842T>C | XP_011537603.1:p.Leu281Pro | |
| XM_011539302.1:c.842T>C | XP_011537604.1:p.Leu281Pro | |
| XM_011539303.1:c.1778T>C | XP_011537605.1:p.Leu593Pro | |
| XM_011539304.1:c.1778T>C | XP_011537606.1:p.Leu593Pro | |
| XM_011539305.1:c.1778T>C | XP_011537607.1:p.Leu593Pro | |
| XM_011539306.1:c.1778T>C | XP_011537608.1:p.Leu593Pro | |
| XM_011539307.1:c.1778T>C | XP_011537609.1:p.Leu593Pro | |
| XM_011539308.1:c.1778T>C | XP_011537610.1:p.Leu593Pro | |
| XM_011539309.1:c.338T>C | XP_011537611.1:p.Leu113Pro | |
| NM_080722.4:c.1769T>C MANE Select | NP_542453.2:p.Leu590Pro | |
| NM_139155.3:c.1778T>C | NP_631894.2:p.Leu593Pro | |
| XM_011539300.2:c.1778T>C | XP_011537602.1:p.Leu593Pro | |
| XM_011539301.2:c.842T>C | XP_011537603.1:p.Leu281Pro | |
| XM_011539302.2:c.842T>C | XP_011537604.1:p.Leu281Pro | |
| XM_011539303.2:c.1778T>C | XP_011537605.1:p.Leu593Pro | |
| XM_011539306.2:c.1778T>C | XP_011537608.1:p.Leu593Pro | |
| XM_011539307.2:c.1778T>C | XP_011537609.1:p.Leu593Pro | |
| XM_011539308.2:c.1778T>C | XP_011537610.1:p.Leu593Pro | |
| XR_001747025.1:n.2063T>C |