Linked Data
ClinVar Variation Id:
2157717
ClinVar RCV Id:
RCV003078240
dbSNP Id:
rs1213886762
gnomAD v2:
2-190428521-G-A
gnomAD v3:
2-189563795-G-A
gnomAD v4:
2-189563795-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189563795G>A , CM000664.2:g.189563795G>A | GRCh38 |
| NC_000002.11:g.190428521G>A , CM000664.1:g.190428521G>A | GRCh37 |
| NC_000002.10:g.190136766G>A | NCBI36 |
| NG_009027.1:g.22017C>T , LRG_837:g.22017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.1191C>T MANE Select | ENSP00000261024.3:p.Pro397= | |
| ENST00000261024.6:c.1191C>T | ENSP00000261024.2:p.Pro397= | |
| NM_014585.5:c.1191C>T , LRG_837t1:c.1191C>T | NP_055400.1:p.Pro397= | |
| XM_005246505.1:c.1071C>T | XP_005246562.1:p.Pro357= | |
| XM_005246505.2:c.1071C>T | XP_005246562.1:p.Pro357= | |
| XM_017003938.2:c.1071C>T | XP_016859427.1:p.Pro357= | |
| NM_014585.6:c.1191C>T MANE Select | NP_055400.1:p.Pro397= |