Linked Data
ClinVar Variation Id:
287880
dbSNP Id:
rs200793396
ExAC:
5:78135195 G / A
gnomAD v2:
5-78135195-G-A
gnomAD v3:
5-78839372-G-A
gnomAD v4:
5-78839372-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78839372G>A , CM000667.2:g.78839372G>A | GRCh38 |
| NC_000005.9:g.78135195G>A , CM000667.1:g.78135195G>A | GRCh37 |
| NC_000005.8:g.78170951G>A | NCBI36 |
| NG_007089.1:g.152163C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.1197C>T MANE Select | ENSP00000264914.4:p.Phe399= | |
| ENST00000264914.8:c.1197C>T | ENSP00000264914.4:p.Phe399= | |
| ENST00000396151.7:c.1197C>T | ENSP00000379455.3:p.Phe399= | |
| ENST00000565165.1:c.1197C>T | ENSP00000456339.1:p.Phe399= | |
| NM_000046.3:c.1197C>T | NP_000037.2:p.Phe399= | |
| NM_198709.2:c.1197C>T | NP_942002.1:p.Phe399= | |
| XM_005248506.3:c.1197C>T | XP_005248563.1:p.Phe399= | |
| XM_011543390.1:c.1197C>T | XP_011541692.1:p.Phe399= | |
| XM_011543391.1:c.1197C>T | XP_011541693.1:p.Phe399= | |
| XM_011543392.1:c.1197C>T | XP_011541694.1:p.Phe399= | |
| NM_000046.4:c.1197C>T | NP_000037.2:p.Phe399= | |
| XM_011543391.3:c.1197C>T | XP_011541693.1:p.Phe399= | |
| XM_011543392.3:c.1197C>T | XP_011541694.1:p.Phe399= | |
| XM_017009471.2:c.1197C>T | XP_016864960.1:p.Phe399= | |
| XR_001742065.2:n.1268C>T | ||
| XR_001742066.2:n.1268C>T | ||
| NM_000046.5:c.1197C>T MANE Select | NP_000037.2:p.Phe399= | |
| NM_198709.3:c.1197C>T | NP_942002.1:p.Phe399= |