Linked Data
dbSNP Id:
rs752666548
ExAC:
17:78063573 A / G
gnomAD v2:
17-78063573-A-G
gnomAD v4:
17-80089774-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80089774A>G , CM000679.2:g.80089774A>G | GRCh38 |
| NC_000017.10:g.78063573A>G , CM000679.1:g.78063573A>G | GRCh37 |
| NC_000017.9:g.75678168A>G | NCBI36 |
| NG_029761.1:g.58143A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397545.9:c.2722A>G MANE Select | ENSP00000380679.4:p.Met908Val | |
| ENST00000374877.7:c.2722A>G | ENSP00000364011.3:p.Met908Val | |
| ENST00000397545.8:c.2722A>G | ENSP00000380679.4:p.Met908Val | |
| ENST00000572253.5:n.2973A>G | ||
| ENST00000573903.1:n.384A>G | ||
| ENST00000574799.5:n.2259A>G | ||
| ENST00000575431.1:n.366A>G | ||
| NM_001243342.1:c.2722A>G | NP_001230271.1:p.Met908Val | |
| NM_017950.3:c.2722A>G | NP_060420.2:p.Met908Val | |
| XM_011524963.1:c.2632A>G | XP_011523265.1:p.Met878Val | |
| XM_011524964.1:c.1543A>G | XP_011523266.1:p.Met515Val | |
| XR_934495.1:n.2840A>G | ||
| XM_011524963.3:c.2632A>G | XP_011523265.1:p.Met878Val | |
| XM_011524964.3:c.1543A>G | XP_011523266.1:p.Met515Val | |
| XM_024450821.1:c.2632A>G | XP_024306589.1:p.Met878Val | |
| XR_934495.2:n.2840A>G | ||
| NM_017950.4:c.2722A>G MANE Select | NP_060420.2:p.Met908Val | |
| NM_001243342.2:c.2722A>G | NP_001230271.1:p.Met908Val |