Linked Data
ClinVar Variation Id:
1152575
dbSNP Id:
rs1376380710
gnomAD v2:
19-1399172-T-C
gnomAD v3:
19-1399173-T-C
gnomAD v4:
19-1399173-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399173T>C , CM000681.2:g.1399173T>C | GRCh38 |
| NC_000019.9:g.1399172T>C , CM000681.1:g.1399172T>C | GRCh37 |
| NC_000019.8:g.1350172T>C | NCBI36 |
| NG_009785.1:g.7381A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.414A>G MANE Select | ENSP00000252288.1:p.Pro138= | |
| ENST00000447102.8:c.414A>G | ENSP00000403536.2:p.Pro138= | |
| ENST00000591788.3:c.97A>G | ||
| ENST00000640164.1:n.247A>G | ||
| ENST00000640762.1:c.345A>G | ENSP00000492031.1:p.Pro115= | |
| ENST00000252288.6:c.414A>G | ENSP00000252288.1:p.Pro138= | |
| ENST00000447102.7:c.414A>G | ENSP00000403536.2:p.Pro138= | |
| ENST00000591788.2:c.99A>G | ENSP00000466341.2:p.Pro33= | |
| NM_000156.5:c.414A>G | NP_000147.1:p.Pro138= | |
| NM_138924.2:c.414A>G | NP_620279.1:p.Pro138= | |
| NM_000156.6:c.414A>G MANE Select | NP_000147.1:p.Pro138= | |
| NM_138924.3:c.414A>G | NP_620279.1:p.Pro138= |