Linked Data
ClinVar Variation Id:
990984
dbSNP Id:
rs1455637147
gnomAD v2:
4-996252-A-G
gnomAD v4:
4-1002464-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002464A>G , CM000666.2:g.1002464A>G | GRCh38 |
| NC_000004.11:g.996252A>G , CM000666.1:g.996252A>G | GRCh37 |
| NC_000004.10:g.986252A>G | NCBI36 |
| NG_008103.1:g.20468A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1168A>G | ENSP00000247933.4:p.Met390Val | |
| ENST00000514224.2:c.1168A>G MANE Select | ENSP00000425081.2:p.Met390Val | |
| ENST00000652070.1:n.1224A>G | ||
| ENST00000247933.8:c.1168A>G | ENSP00000247933.4:p.Met390Val | |
| ENST00000514224.1:c.772A>G | ENSP00000425081.1:p.Met258Val | |
| ENST00000514698.5:n.1275A>G | ||
| NM_000203.4:c.1168A>G | NP_000194.2:p.Met390Val | |
| NR_110313.1:n.1256A>G | ||
| XM_006713882.2:c.772A>G | XP_006713945.1:p.Met258Val | |
| XM_011513459.1:c.1234A>G | XP_011511761.1:p.Met412Val | |
| XM_011513460.1:c.1027A>G | XP_011511762.1:p.Met343Val | |
| XM_011513461.1:c.961A>G | XP_011511763.1:p.Met321Val | |
| XM_011513462.1:c.880A>G | XP_011511764.1:p.Met294Val | |
| XM_011513463.1:c.880A>G | XP_011511765.1:p.Met294Val | |
| XR_924947.1:n.1237A>G | ||
| NM_000203.5:c.1168A>G MANE Select | NP_000194.2:p.Met390Val | |
| NM_001363576.1:c.772A>G | NP_001350505.1:p.Met258Val | |
| XM_011513461.2:c.961A>G | XP_011511763.1:p.Met321Val | |
| XM_017008163.1:c.208A>G | XP_016863652.1:p.Met70Val |