Linked Data
ClinVar Variation Id:
2237988
ClinVar RCV Id:
RCV002729004
dbSNP Id:
rs1480501046
gnomAD v2:
17-72915987-A-G
gnomAD v3:
17-74919892-A-G
gnomAD v4:
17-74919892-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919892A>G , CM000679.2:g.74919892A>G | GRCh38 |
| NC_000017.10:g.72915987A>G , CM000679.1:g.72915987A>G | GRCh37 |
| NC_000017.9:g.70427582A>G | NCBI36 |
| NG_007882.1:g.8365T>C | |
| NG_033062.1:g.618A>G | |
| NG_007882.2:g.8372T>C | |
| NG_033062.2:g.618A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.944T>C MANE Select | ENSP00000480279.1:p.Met315Thr | |
| ENST00000579243.1:c.*543T>C | ENSP00000462568.1:n.*543T>C | |
| ENST00000614341.4:c.944T>C | ENSP00000480279.1:p.Met315Thr | |
| NM_001282489.2:c.635T>C | NP_001269418.1:p.Met212Thr | |
| NM_173477.4:c.944T>C | NP_775748.2:p.Met315Thr | |
| XM_011524296.1:c.635T>C | XP_011522598.1:p.Met212Thr | |
| XM_011524296.2:c.635T>C | XP_011522598.1:p.Met212Thr | |
| NM_173477.5:c.944T>C MANE Select | NP_775748.2:p.Met315Thr | |
| NM_001282489.3:c.635T>C | NP_001269418.1:p.Met212Thr |