Linked Data
ClinVar Variation Id:
446285
dbSNP Id:
rs376902371
ExAC:
17:18211681 T / C
gnomAD v2:
17-18211681-T-C
gnomAD v3:
17-18308367-T-C
gnomAD v4:
17-18308367-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18308367T>C , CM000679.2:g.18308367T>C | GRCh38 |
| NC_000017.10:g.18211681T>C , CM000679.1:g.18211681T>C | GRCh37 |
| NC_000017.9:g.18152406T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321105.10:c.298A>G MANE Select | ENSP00000321636.5:p.Met100Val | |
| ENST00000321105.9:c.298A>G | ENSP00000321636.5:p.Met100Val | |
| ENST00000461127.5:c.298A>G | ENSP00000464338.1:p.Met100Val | |
| ENST00000472959.5:n.480A>G | ||
| ENST00000542570.5:c.298A>G | ENSP00000442336.2:p.Met100Val | |
| ENST00000580095.5:c.223A>G | ENSP00000462790.1:p.Met75Val | |
| ENST00000582230.5:n.489A>G | ||
| ENST00000582981.5:c.240+515A>G | ENSP00000462378.1:n.240+515A>G | |
| ENST00000583328.5:n.294A>G | ||
| ENST00000584582.5:c.181-1401A>G | ENSP00000462136.1:n.181-1401A>G | |
| ENST00000584669.5:n.450A>G | ||
| ENST00000584887.1:n.490A>G | ||
| ENST00000585031.2:c.252+46A>G | ENSP00000464493.1:n.252+46A>G | |
| NM_004618.3:c.298A>G | NP_004609.1:p.Met100Val | |
| XM_005256776.2:c.29+515A>G | XP_005256833.1:n.29+515A>G | |
| XM_011524000.1:c.298A>G | XP_011522302.1:p.Met100Val | |
| NM_001320759.1:c.29+515A>G | NP_001307688.1:n.29+515A>G | |
| NM_004618.4:c.298A>G | NP_004609.1:p.Met100Val | |
| XM_024450903.1:c.-662A>G | XP_024306671.1:n.-662A>G | |
| XR_001752601.2:n.516A>G | ||
| NM_004618.5:c.298A>G MANE Select | NP_004609.1:p.Met100Val | |
| NM_001320759.2:c.29+515A>G | NP_001307688.1:n.29+515A>G |