Linked Data
ClinVar Variation Id:
528223
ClinVar RCV Id:
RCV000633308
dbSNP Id:
rs1557007136
gnomAD v2:
X-48547102-C-G
gnomAD v4:
X-48688713-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688713C>G , CM000685.2:g.48688713C>G | GRCh38 |
| NC_000023.10:g.48547102C>G , CM000685.1:g.48547102C>G | GRCh37 |
| NC_000023.9:g.48432046C>G | NCBI36 |
| NG_007877.1:g.9917C>G , LRG_125:g.9917C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.229C>G | ||
| ENST00000698625.1:c.985C>G | ENSP00000513844.1:p.Pro329Ala | |
| ENST00000698626.1:c.985C>G | ENSP00000513845.1:p.Pro329Ala | |
| ENST00000698635.1:c.985C>G | ENSP00000513850.1:p.Pro329Ala | |
| ENST00000376701.5:c.985C>G MANE Select | ENSP00000365891.4:p.Pro329Ala | |
| ENST00000376701.4:c.985C>G | ENSP00000365891.4:p.Pro329Ala | |
| ENST00000474174.1:n.229C>G | ||
| NM_000377.2:c.985C>G , LRG_125t1:c.985C>G | NP_000368.1:p.Pro329Ala | |
| XM_011543977.1:c.932-103C>G | XP_011542279.1:n.932-103C>G | |
| XM_011543977.2:c.932-103C>G | XP_011542279.1:n.932-103C>G | |
| XM_017029786.1:c.985C>G | XP_016885275.1:p.Pro329Ala | |
| NM_000377.3:c.985C>G MANE Select | NP_000368.1:p.Pro329Ala |