Linked Data
dbSNP Id:
rs1487555931
gnomAD v2:
6-35467902-G-C
gnomAD v3:
6-35500125-G-C
gnomAD v4:
6-35500125-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500125G>C , CM000668.2:g.35500125G>C | GRCh38 |
| NC_000006.11:g.35467902G>C , CM000668.1:g.35467902G>C | GRCh37 |
| NC_000006.10:g.35575880G>C | NCBI36 |
| NG_009077.1:g.17746C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1351C>G MANE Select | ENSP00000229771.6:p.Gln451Glu | |
| ENST00000229771.10:c.1351C>G | ENSP00000229771.6:p.Gln451Glu | |
| ENST00000322263.8:c.1192C>G | ENSP00000319414.4:p.Gln398Glu | |
| ENST00000495781.1:n.527C>G | ||
| ENST00000614066.4:c.1345C>G | ENSP00000477534.1:p.Gln449Glu | |
| NM_001289395.1:c.1192C>G | NP_001276324.1:p.Gln398Glu | |
| NM_003322.4:c.1351C>G | NP_003313.3:p.Gln451Glu | |
| NM_003322.5:c.1351C>G | NP_003313.3:p.Gln451Glu | |
| NM_003322.6:c.1351C>G MANE Select | NP_003313.3:p.Gln451Glu | |
| NM_001289395.2:c.1192C>G | NP_001276324.1:p.Gln398Glu |