Linked Data
dbSNP Id:
rs760221585
ExAC:
5:149357700 T / C
gnomAD v2:
5-149357700-T-C
gnomAD v3:
5-149978137-T-C
gnomAD v4:
5-149978137-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978137T>C , CM000667.2:g.149978137T>C | GRCh38 |
| NC_000005.9:g.149357700T>C , CM000667.1:g.149357700T>C | GRCh37 |
| NC_000005.8:g.149337893T>C | NCBI36 |
| NG_007147.2:g.19255T>C , LRG_684:g.19255T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.717T>C | ||
| ENST00000286298.5:c.485T>C MANE Select | ENSP00000286298.4:p.Val162Ala | |
| ENST00000286298.4:c.485T>C | ENSP00000286298.4:p.Val162Ala | |
| ENST00000503336.1:c.158T>C | ENSP00000426053.1:p.Val53Ala | |
| NM_000112.3:c.485T>C , LRG_684t1:c.485T>C | NP_000103.2:p.Val162Ala | |
| XM_017009191.2:c.485T>C | XP_016864680.1:p.Val162Ala | |
| NM_000112.4:c.485T>C MANE Select | NP_000103.2:p.Val162Ala |