Linked Data
ClinVar Variation Id:
1487236
ClinVar RCV Id:
RCV002033499
dbSNP Id:
rs1301172097
gnomAD v2:
3-164714558-T-C
gnomAD v3:
3-164996770-T-C
gnomAD v4:
3-164996770-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164996770T>C , CM000665.2:g.164996770T>C | GRCh38 |
| NC_000003.11:g.164714558T>C , CM000665.1:g.164714558T>C | GRCh37 |
| NC_000003.10:g.166197252T>C | NCBI36 |
| NG_017043.1:g.86726A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.4543A>G MANE Select | ENSP00000264382.3:p.Met1515Val | |
| ENST00000264382.7:c.4543A>G | ENSP00000264382.3:p.Met1515Val | |
| NM_001041.3:c.4543A>G | NP_001032.2:p.Met1515Val | |
| XM_011513078.1:c.4444A>G | XP_011511380.1:p.Met1482Val | |
| XM_011513078.2:c.4444A>G | XP_011511380.1:p.Met1482Val | |
| NM_001041.4:c.4543A>G MANE Select | NP_001032.2:p.Met1515Val |