Linked Data
ClinVar Variation Id:
1279483
ClinVar RCV Id:
RCV001693056
dbSNP Id:
rs7946
ExAC:
17:17409560 C / T
gnomAD v2:
17-17409560-C-T
gnomAD v3:
17-17506246-C-T
gnomAD v4:
17-17506246-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17506246C>T , CM000679.2:g.17506246C>T | GRCh38 |
| NC_000017.10:g.17409560C>T , CM000679.1:g.17409560C>T | GRCh37 |
| NC_000017.9:g.17350285C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255389.10:c.634G>A MANE Select | ENSP00000255389.5:p.Val212Met | |
| ENST00000255389.9:c.634G>A | ENSP00000255389.5:p.Val212Met | |
| ENST00000395781.6:c.665G>A | ENSP00000379127.2:p.Ser222Asn | |
| ENST00000395782.5:c.523G>A | ENSP00000379128.1:p.Val175Met | |
| ENST00000395783.5:c.523G>A | ENSP00000379129.1:p.Val175Met | |
| ENST00000435340.6:c.602G>A | ENSP00000391288.2:p.Ser201Asn | |
| ENST00000477595.5:n.128G>A | ||
| ENST00000484838.6:n.498G>A | ||
| ENST00000490392.5:n.368G>A | ||
| ENST00000580147.5:c.*132G>A | ENSP00000463112.1:n.*132G>A | |
| ENST00000582268.5:n.78G>A | ||
| NM_001267551.1:c.568G>A | NP_001254480.1:p.Val190Met | |
| NM_001267552.1:c.665G>A | NP_001254481.1:p.Ser222Asn | |
| NM_007169.2:c.523G>A | NP_009100.2:p.Val175Met | |
| NM_148172.2:c.634G>A | NP_680477.1:p.Val212Met | |
| NM_148173.1:c.523G>A | NP_680478.1:p.Val175Met | |
| XM_006721418.2:c.571G>A | XP_006721481.2:p.Val191Met | |
| XM_006721418.4:c.571G>A | XP_006721481.2:p.Val191Met | |
| XM_017024016.1:c.301G>A | XP_016879505.1:p.Val101Met | |
| XM_024450532.1:c.523G>A | XP_024306300.1:p.Val175Met | |
| NM_148172.3:c.634G>A MANE Select | NP_680477.1:p.Val212Met | |
| NM_001267551.2:c.568G>A | NP_001254480.1:p.Val190Met | |
| NM_001267552.2:c.665G>A | NP_001254481.1:p.Ser222Asn | |
| NM_007169.3:c.523G>A | NP_009100.2:p.Val175Met | |
| NM_148173.2:c.523G>A | NP_680478.1:p.Val175Met |