Linked Data
ClinVar Variation Id:
4969
dbSNP Id:
rs137852989
ExAC:
2:44105004 C / G
gnomAD v2:
2-44105004-C-G
gnomAD v3:
2-43877865-C-G
gnomAD v4:
2-43877865-C-G
PubMed:
PMID:11099417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877865C>G , CM000664.2:g.43877865C>G | GRCh38 |
| NC_000002.11:g.44105004C>G , CM000664.1:g.44105004C>G | GRCh37 |
| NC_000002.10:g.43958508C>G | NCBI36 |
| NG_008884.1:g.43902C>G | |
| NG_008884.2:g.50924C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1974C>G MANE Select | ENSP00000272286.2:p.Tyr658Ter | |
| ENST00000272286.2:c.1974C>G | ENSP00000272286.2:p.Tyr658Ter | |
| NM_022437.2:c.1974C>G | NP_071882.1:p.Tyr658Ter | |
| XM_005264483.2:c.1971C>G | XP_005264540.1:p.Tyr657Ter | |
| XM_011533029.1:c.1986C>G | XP_011531331.1:p.Tyr662Ter | |
| XM_011533030.1:c.1983C>G | XP_011531332.1:p.Tyr661Ter | |
| XM_011533031.1:c.1758C>G | XP_011531333.1:p.Tyr586Ter | |
| XR_939707.1:n.2476C>G | ||
| NM_001357321.1:c.1971C>G | NP_001344250.1:p.Tyr657Ter | |
| XM_011533029.2:c.1986C>G | XP_011531331.1:p.Tyr662Ter | |
| XM_011533030.2:c.1983C>G | XP_011531332.1:p.Tyr661Ter | |
| XR_001738891.1:n.2490C>G | ||
| XR_939707.2:n.2490C>G | ||
| NM_022437.3:c.1974C>G MANE Select | NP_071882.1:p.Tyr658Ter | |
| NM_001357321.2:c.1971C>G | NP_001344250.1:p.Tyr657Ter |