Linked Data
dbSNP Id:
rs747748830
ExAC:
19:39068798 A / G
gnomAD v2:
19-39068798-A-G
gnomAD v4:
19-38578158-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38578158A>G , CM000681.2:g.38578158A>G | GRCh38 |
| NC_000019.9:g.39068798A>G , CM000681.1:g.39068798A>G | GRCh37 |
| NC_000019.8:g.43760638A>G | NCBI36 |
| NG_008866.1:g.149459A>G , LRG_766:g.149459A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1254A>G | ||
| ENST00000688602.1:c.2651A>G | ||
| ENST00000689936.1:c.2623A>G | ||
| ENST00000359596.8:c.14318A>G MANE Select | ENSP00000352608.2:p.Asp4773Gly | |
| ENST00000355481.8:c.14303A>G | ENSP00000347667.3:p.Asp4768Gly | |
| ENST00000359596.7:c.14318A>G | ENSP00000352608.2:p.Asp4773Gly | |
| ENST00000360985.7:c.14300A>G | ENSP00000354254.4:p.Asp4767Gly | |
| NM_000540.2:c.14318A>G , LRG_766t1:c.14318A>G | NP_000531.2:p.Asp4773Gly | |
| NM_001042723.1:c.14303A>G | NP_001036188.1:p.Asp4768Gly | |
| XM_006723317.1:c.14300A>G | XP_006723380.1:p.Asp4767Gly | |
| XM_006723319.1:c.14285A>G | XP_006723382.1:p.Asp4762Gly | |
| XM_011527204.1:c.14315A>G | XP_011525506.1:p.Asp4772Gly | |
| XM_011527205.1:c.14231A>G | XP_011525507.1:p.Asp4744Gly | |
| XM_006723317.2:c.14300A>G | XP_006723380.1:p.Asp4767Gly | |
| XM_006723319.2:c.14285A>G | XP_006723382.1:p.Asp4762Gly | |
| XM_011527205.2:c.14231A>G | XP_011525507.1:p.Asp4744Gly | |
| NM_000540.3:c.14318A>G MANE Select | NP_000531.2:p.Asp4773Gly | |
| NM_001042723.2:c.14303A>G | NP_001036188.1:p.Asp4768Gly |