Linked Data
ClinVar Variation Id:
2029044
ClinVar RCV Id:
RCV002876445
dbSNP Id:
rs982144175
gnomAD v4:
19-6714053-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714053G>C , CM000681.2:g.6714053G>C | GRCh38 |
| NC_000019.9:g.6714064G>C , CM000681.1:g.6714064G>C | GRCh37 |
| NC_000019.8:g.6665064G>C | NCBI36 |
| NG_009557.1:g.11599C>G , LRG_27:g.11599C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.589C>G | ENSP00000512083.1:p.Pro197Ala | |
| ENST00000245907.11:c.712C>G MANE Select | ENSP00000245907.4:p.Pro238Ala | |
| ENST00000245907.10:c.712C>G | ENSP00000245907.4:p.Pro238Ala | |
| ENST00000595577.1:n.216C>G | ||
| NM_000064.3:c.712C>G | NP_000055.2:p.Pro238Ala | |
| NM_000064.4:c.712C>G MANE Select | NP_000055.2:p.Pro238Ala |