Linked Data
ClinVar Variation Id:
528728
ClinVar RCV Id:
RCV000633951
dbSNP Id:
rs1553177765
gnomAD v4:
1-17028715-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028715A>G , CM000663.2:g.17028715A>G | GRCh38 |
| NC_000001.10:g.17355210A>G , CM000663.1:g.17355210A>G | GRCh37 |
| NC_000001.9:g.17227797A>G | NCBI36 |
| NG_012340.1:g.30456T>C , LRG_316:g.30456T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.137T>C | ENSP00000481376.2:p.Met46Thr | |
| ENST00000491274.6:c.266T>C | ENSP00000480482.2:p.Met89Thr | |
| ENST00000375499.8:c.308T>C MANE Select | ENSP00000364649.3:p.Met103Thr | |
| ENST00000375499.7:c.308T>C | ENSP00000364649.3:p.Met103Thr | |
| ENST00000463045.2:c.137T>C | ENSP00000481376.1:p.Met46Thr | |
| ENST00000475506.1:n.225T>C | ||
| ENST00000485515.5:n.296T>C | ||
| ENST00000491274.5:c.266T>C | ENSP00000480482.1:p.Met89Thr | |
| NM_003000.2:c.308T>C , LRG_316t1:c.308T>C | NP_002991.2:p.Met103Thr | |
| NM_003000.3:c.308T>C MANE Select | NP_002991.2:p.Met103Thr |