Linked Data
dbSNP Id:
rs140129129
gnomAD v2:
17-61564386-G-A
gnomAD v3:
17-63487025-G-A
gnomAD v4:
17-63487025-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63487025G>A , CM000679.2:g.63487025G>A | GRCh38 |
| NC_000017.10:g.61564386G>A , CM000679.1:g.61564386G>A | GRCh37 |
| NC_000017.9:g.58918118G>A | NCBI36 |
| NG_011648.1:g.14953G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2257G>A MANE Select | ENSP00000290866.4:p.Val753Met | |
| ENST00000290863.10:c.535G>A | ENSP00000290863.6:p.Val179Met | |
| ENST00000290866.9:c.2257G>A | ENSP00000290866.4:p.Val753Met | |
| ENST00000413513.7:c.535G>A | ENSP00000392247.3:p.Val179Met | |
| ENST00000428043.5:c.2257G>A | ENSP00000397593.2:p.Val753Met | |
| ENST00000577647.2:c.535G>A | ENSP00000464149.1:p.Val179Met | |
| ENST00000578839.5:c.*327G>A | ENSP00000462110.2:n.*327G>A | |
| ENST00000579204.1:c.438G>A | ENSP00000464629.1:n.438G>A | |
| ENST00000579314.5:c.535G>A | ENSP00000462599.1:p.Val179Met | |
| ENST00000579726.5:c.819G>A | ||
| ENST00000582005.5:c.*177G>A | ENSP00000462002.1:n.*177G>A | |
| ENST00000582761.1:c.25G>A | ENSP00000462909.1:p.Val9Met | |
| ENST00000584865.5:n.203G>A | ||
| NM_000789.3:c.2257G>A | NP_000780.1:p.Val753Met | |
| NM_001178057.1:c.535G>A | NP_001171528.1:p.Val179Met | |
| NM_152830.2:c.535G>A | NP_690043.1:p.Val179Met | |
| XM_005257110.1:c.1708G>A | XP_005257167.1:p.Val570Met | |
| XM_006721737.2:c.595G>A | XP_006721800.2:p.Val199Met | |
| XM_006721737.3:c.595G>A | XP_006721800.2:p.Val199Met | |
| NM_000789.4:c.2257G>A MANE Select | NP_000780.1:p.Val753Met | |
| NM_001178057.2:c.535G>A | NP_001171528.1:p.Val179Met | |
| NM_152830.3:c.535G>A | NP_690043.1:p.Val179Met | |
| NM_001382700.1:c.1690G>A | NP_001369629.1:p.Val564Met | |
| NM_001382701.1:c.1405G>A | NP_001369630.1:p.Val469Met | |
| NM_001382702.1:c.187G>A | NP_001369631.1:p.Val63Met | |
| NR_168483.1:n.557G>A |