Linked Data
ClinVar Variation Id:
265685
dbSNP Id:
rs886039730
gnomAD v3:
16-81096278-T-C
gnomAD v4:
16-81096278-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81096278T>C , CM000678.2:g.81096278T>C | GRCh38 |
| NC_000016.9:g.81129883T>C , CM000678.1:g.81129883T>C | GRCh37 |
| NC_000016.8:g.79687384T>C | NCBI36 |
| NG_016427.1:g.5098A>G , LRG_541:g.5098A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315467.9:c.1A>G MANE Select | ENSP00000319531.3:p.Met1Val | |
| ENST00000564536.2:c.1A>G | ENSP00000491651.1:p.Met1Val | |
| ENST00000639169.1:c.1A>G | ENSP00000491127.1:p.Met1Val | |
| ENST00000639689.1:c.1A>G | ENSP00000492187.1:p.Met1Val | |
| ENST00000640345.1:c.1A>G | ENSP00000492798.1:p.Met1Val | |
| ENST00000640370.1:c.1A>G | ENSP00000492599.1:p.Met1Val | |
| ENST00000315467.7:c.1A>G | ENSP00000319531.3:p.Met1Val | |
| ENST00000564477.1:c.1A>G | ENSP00000455287.1:p.Met1Val | |
| ENST00000566566.1:c.1A>G | ENSP00000455019.1:p.Met1Val | |
| NM_004483.4:c.1A>G , LRG_541t1:c.1A>G | NP_004474.2:p.Met1Val | |
| NR_033249.1:n.98A>G | ||
| XM_017023136.2:c.1A>G | XP_016878625.1:p.Met1Val | |
| NM_004483.5:c.1A>G MANE Select | NP_004474.2:p.Met1Val | |
| NR_033249.2:n.118A>G |