Linked Data
ClinVar Variation Id:
295745
dbSNP Id:
rs150666616
ExAC:
1:22163446 C / T
gnomAD v2:
1-22163446-C-T
gnomAD v3:
1-21836953-C-T
gnomAD v4:
1-21836953-C-T
COSMIC:
COSM1339041
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21836953C>T , CM000663.2:g.21836953C>T | GRCh38 |
| NC_000001.10:g.22163446C>T , CM000663.1:g.22163446C>T | GRCh37 |
| NC_000001.9:g.22036033C>T | NCBI36 |
| NG_016740.1:g.105305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.10204G>A MANE Select | ENSP00000363827.3:p.Val3402Met | |
| ENST00000374676.4:c.183-1316G>A | ||
| ENST00000374695.7:c.10204G>A | ENSP00000363827.3:p.Val3402Met | |
| NM_001291860.1:c.10207G>A | NP_001278789.1:p.Val3403Met | |
| NM_005529.6:c.10204G>A | NP_005520.4:p.Val3402Met | |
| XM_006710594.2:c.10750G>A | XP_006710657.1:p.Val3584Met | |
| XM_006710595.2:c.10702G>A | XP_006710658.1:p.Val3568Met | |
| XM_006710596.2:c.10681G>A | XP_006710659.1:p.Val3561Met | |
| XM_006710597.2:c.10204G>A | XP_006710660.1:p.Val3402Met | |
| XM_011541317.1:c.10753G>A | XP_011539619.1:p.Val3585Met | |
| XM_011541318.1:c.10753G>A | XP_011539620.1:p.Val3585Met | |
| XM_011541319.1:c.10753G>A | XP_011539621.1:p.Val3585Met | |
| XM_011541320.1:c.10474G>A | XP_011539622.1:p.Val3492Met | |
| XM_011541321.1:c.10258G>A | XP_011539623.1:p.Val3420Met | |
| XM_011541318.2:c.10753G>A | XP_011539620.1:p.Val3585Met | |
| XM_017001120.1:c.10399G>A | XP_016856609.1:p.Val3467Met | |
| XM_017001121.1:c.10348G>A | XP_016856610.1:p.Val3450Met | |
| XM_017001122.1:c.10345G>A | XP_016856611.1:p.Val3449Met | |
| NM_005529.7:c.10204G>A MANE Select | NP_005520.4:p.Val3402Met | |
| NM_001291860.2:c.10207G>A | NP_001278789.1:p.Val3403Met |