Linked Data
ClinVar Variation Id:
2099582
ClinVar RCV Id:
RCV003021788
dbSNP Id:
rs1440330475
gnomAD v2:
6-35467918-G-C
gnomAD v4:
6-35500141-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500141G>C , CM000668.2:g.35500141G>C | GRCh38 |
| NC_000006.11:g.35467918G>C , CM000668.1:g.35467918G>C | GRCh37 |
| NC_000006.10:g.35575896G>C | NCBI36 |
| NG_009077.1:g.17730C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1335C>G MANE Select | ENSP00000229771.6:p.Gly445= | |
| ENST00000229771.10:c.1335C>G | ENSP00000229771.6:p.Gly445= | |
| ENST00000322263.8:c.1176C>G | ENSP00000319414.4:p.Gly392= | |
| ENST00000495781.1:n.511C>G | ||
| ENST00000614066.4:c.1329C>G | ENSP00000477534.1:p.Gly443= | |
| NM_001289395.1:c.1176C>G | NP_001276324.1:p.Gly392= | |
| NM_003322.4:c.1335C>G | NP_003313.3:p.Gly445= | |
| NM_003322.5:c.1335C>G | NP_003313.3:p.Gly445= | |
| NM_003322.6:c.1335C>G MANE Select | NP_003313.3:p.Gly445= | |
| NM_001289395.2:c.1176C>G | NP_001276324.1:p.Gly392= |