Linked Data
ClinVar Variation Id:
194177
ClinVar RCV Id:
RCV000174483
dbSNP Id:
rs794727090
gnomAD v4:
16-88818068-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88818068T>G , CM000678.2:g.88818068T>G | GRCh38 |
| NC_000016.9:g.88884476T>G , CM000678.1:g.88884476T>G | GRCh37 |
| NC_000016.8:g.87411977T>G | NCBI36 |
| NG_008667.1:g.43899A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.1421A>C MANE Select | ENSP00000268695.5:p.Gln474Pro | |
| ENST00000268695.9:c.1421A>C | ENSP00000268695.5:p.Gln474Pro | |
| ENST00000562593.5:n.4830A>C | ||
| ENST00000567525.5:c.1102A>C | ENSP00000454484.1:n.1102A>C | |
| ENST00000568613.5:c.1540A>C | ENSP00000457921.1:n.1540A>C | |
| NM_000512.4:c.1421A>C | NP_000503.1:p.Gln474Pro | |
| XM_005256301.2:c.1421A>C | XP_005256358.1:p.Gln474Pro | |
| XM_005256302.1:c.1439A>C | XP_005256359.1:p.Gln480Pro | |
| XM_011522982.1:c.1439A>C | XP_011521284.1:p.Gln480Pro | |
| XM_011522984.1:c.1439A>C | XP_011521286.1:p.Gln480Pro | |
| NM_001323543.1:c.866A>C | NP_001310472.1:p.Gln289Pro | |
| NM_001323544.1:c.1439A>C | NP_001310473.1:p.Gln480Pro | |
| XM_005256301.3:c.1421A>C | XP_005256358.1:p.Gln474Pro | |
| XM_011522982.2:c.1439A>C | XP_011521284.1:p.Gln480Pro | |
| XM_017023111.2:c.1439A>C | XP_016878600.1:p.Gln480Pro | |
| XM_017023112.2:c.1439A>C | XP_016878601.1:p.Gln480Pro | |
| XM_017023113.1:c.866A>C | XP_016878602.1:p.Gln289Pro | |
| NM_000512.5:c.1421A>C MANE Select | NP_000503.1:p.Gln474Pro | |
| NM_001323543.2:c.866A>C | NP_001310472.1:p.Gln289Pro | |
| NM_001323544.2:c.1439A>C | NP_001310473.1:p.Gln480Pro |