Linked Data
ClinVar Variation Id:
289084
dbSNP Id:
rs147991100
ExAC:
2:44104971 C / G
gnomAD v2:
2-44104971-C-G
gnomAD v3:
2-43877832-C-G
gnomAD v4:
2-43877832-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877832C>G , CM000664.2:g.43877832C>G | GRCh38 |
| NC_000002.11:g.44104971C>G , CM000664.1:g.44104971C>G | GRCh37 |
| NC_000002.10:g.43958475C>G | NCBI36 |
| NG_008884.1:g.43869C>G | |
| NG_008884.2:g.50891C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1941C>G MANE Select | ENSP00000272286.2:p.Val647= | |
| ENST00000272286.2:c.1941C>G | ENSP00000272286.2:p.Val647= | |
| NM_022437.2:c.1941C>G | NP_071882.1:p.Val647= | |
| XM_005264483.2:c.1938C>G | XP_005264540.1:p.Val646= | |
| XM_011533029.1:c.1953C>G | XP_011531331.1:p.Val651= | |
| XM_011533030.1:c.1950C>G | XP_011531332.1:p.Val650= | |
| XM_011533031.1:c.1725C>G | XP_011531333.1:p.Val575= | |
| XR_939707.1:n.2443C>G | ||
| NM_001357321.1:c.1938C>G | NP_001344250.1:p.Val646= | |
| XM_011533029.2:c.1953C>G | XP_011531331.1:p.Val651= | |
| XM_011533030.2:c.1950C>G | XP_011531332.1:p.Val650= | |
| XR_001738891.1:n.2457C>G | ||
| XR_939707.2:n.2457C>G | ||
| NM_022437.3:c.1941C>G MANE Select | NP_071882.1:p.Val647= | |
| NM_001357321.2:c.1938C>G | NP_001344250.1:p.Val646= |