Linked Data
ClinVar Variation Id:
1944831
ClinVar RCV Id:
RCV002680661
dbSNP Id:
rs868106772
gnomAD v2:
17-72915730-T-C
gnomAD v4:
17-74919635-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919635T>C , CM000679.2:g.74919635T>C | GRCh38 |
| NC_000017.10:g.72915730T>C , CM000679.1:g.72915730T>C | GRCh37 |
| NC_000017.9:g.70427325T>C | NCBI36 |
| NG_007882.1:g.8622A>G | |
| NG_033062.1:g.361T>C | |
| NG_007882.2:g.8629A>G | |
| NG_033062.2:g.361T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1201A>G MANE Select | ENSP00000480279.1:p.Met401Val | |
| ENST00000579243.1:c.*800A>G | ENSP00000462568.1:n.*800A>G | |
| ENST00000614341.4:c.1201A>G | ENSP00000480279.1:p.Met401Val | |
| NM_001282489.2:c.892A>G | NP_001269418.1:p.Met298Val | |
| NM_173477.4:c.1201A>G | NP_775748.2:p.Met401Val | |
| XM_011524296.1:c.892A>G | XP_011522598.1:p.Met298Val | |
| XM_011524296.2:c.892A>G | XP_011522598.1:p.Met298Val | |
| NM_173477.5:c.1201A>G MANE Select | NP_775748.2:p.Met401Val | |
| NM_001282489.3:c.892A>G | NP_001269418.1:p.Met298Val |