Linked Data
ClinVar Variation Id:
2806278
ClinVar RCV Id:
RCV003741659
dbSNP Id:
rs1645412662
gnomAD v4:
1-53210193-A-G
MyVariant Identifiers:
chr1:g.53675865A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53210193A>G , CM000663.2:g.53210193A>G | GRCh38 |
| NC_000001.10:g.53675865A>G , CM000663.1:g.53675865A>G | GRCh37 |
| NC_000001.9:g.53448453A>G | NCBI36 |
| NG_008035.1:g.18765A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.519A>G MANE Select | ENSP00000360541.3:p.Pro173= | |
| ENST00000635862.1:c.519A>G | ENSP00000490867.1:p.Pro173= | |
| ENST00000635888.1:c.*505A>G | ENSP00000490042.1:n.*505A>G | |
| ENST00000636239.1:c.*166A>G | ENSP00000490066.1:n.*166A>G | |
| ENST00000636867.1:c.519A>G | ENSP00000489631.1:p.Pro173= | |
| ENST00000636891.1:c.519A>G | ENSP00000490399.1:p.Pro173= | |
| ENST00000636935.1:c.341-3071A>G | ENSP00000489757.1:n.341-3071A>G | |
| ENST00000637252.1:c.519A>G | ENSP00000490492.1:p.Pro173= | |
| ENST00000637726.1:n.2719A>G | ||
| ENST00000638135.1:c.*166A>G | ENSP00000489756.1:n.*166A>G | |
| ENST00000371486.3:c.519A>G | ENSP00000360541.3:p.Pro173= | |
| NM_000098.2:c.519A>G | NP_000089.1:p.Pro173= | |
| XM_005270484.1:c.519A>G | XP_005270541.1:p.Pro173= | |
| NM_001330589.1:c.519A>G | NP_001317518.1:p.Pro173= | |
| NM_000098.3:c.519A>G MANE Select | NP_000089.1:p.Pro173= | |
| NM_001330589.2:c.519A>G | NP_001317518.1:p.Pro173= |