Linked Data
ClinVar Variation Id:
1669598
ClinVar RCV Id:
RCV002198665
dbSNP Id:
rs763121155
gnomAD v2:
6-108197861-T-C
gnomAD v3:
6-107876657-T-C
gnomAD v4:
6-107876657-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107876657T>C , CM000668.2:g.107876657T>C | GRCh38 |
| NC_000006.11:g.108197861T>C , CM000668.1:g.108197861T>C | GRCh37 |
| NC_000006.10:g.108304554T>C | NCBI36 |
| NG_008270.1:g.86622A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.1941A>G MANE Select | ENSP00000357998.4:p.Lys647= | |
| ENST00000369002.8:c.1941A>G | ENSP00000357998.4:p.Lys647= | |
| ENST00000459782.1:n.744A>G | ||
| ENST00000473746.1:n.588A>G | ||
| NM_007214.4:c.1941A>G | NP_009145.1:p.Lys647= | |
| XM_011535399.1:c.1773A>G | XP_011533701.1:p.Lys591= | |
| XM_017010218.2:c.843A>G | XP_016865707.1:p.Lys281= | |
| NM_007214.5:c.1941A>G MANE Select | NP_009145.1:p.Lys647= |