Linked Data
dbSNP Id:
rs753766103
ExAC:
11:6415637 A / G
gnomAD v2:
11-6415637-A-G
gnomAD v4:
11-6394407-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394407A>G , CM000673.2:g.6394407A>G | GRCh38 |
| NC_000011.9:g.6415637A>G , CM000673.1:g.6415637A>G | GRCh37 |
| NC_000011.8:g.6372213A>G | NCBI36 |
| NG_011780.1:g.8983A>G | |
| NG_029615.1:g.30008T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1696A>G MANE Select | ENSP00000340409.4:p.Met566Val | |
| ENST00000342245.8:c.1696A>G | ENSP00000340409.4:p.Met566Val | |
| ENST00000526280.1:c.753A>G | ||
| ENST00000527275.5:c.1693A>G | ENSP00000435350.1:p.Met565Val | |
| ENST00000531303.5:c.*547A>G | ENSP00000432625.1:n.*547A>G | |
| ENST00000533123.5:c.*423A>G | ENSP00000435950.1:n.*423A>G | |
| ENST00000534405.5:c.*527A>G | ENSP00000434353.1:n.*527A>G | |
| NM_000543.4:c.1696A>G | NP_000534.3:p.Met566Val | |
| NM_001007593.2:c.1693A>G | NP_001007594.2:p.Met565Val | |
| XM_005253075.3:c.*189A>G | XP_005253132.1:n.*189A>G | |
| XM_011520303.1:c.1564A>G | XP_011518605.1:p.Met522Val | |
| XM_011520304.1:c.*189A>G | XP_011518606.1:n.*189A>G | |
| NM_001318087.1:c.*189A>G | NP_001305016.1:n.*189A>G | |
| NM_001318088.1:c.775A>G | NP_001305017.1:p.Met259Val | |
| NM_001365135.1:c.1564A>G | NP_001352064.1:p.Met522Val | |
| NR_027400.2:n.1709A>G | ||
| NR_134502.1:n.1248A>G | ||
| XM_011520304.2:c.*189A>G | XP_011518606.1:n.*189A>G | |
| XR_001747940.2:n.1881A>G | ||
| XR_002957158.1:n.2063A>G | ||
| NM_000543.5:c.1696A>G MANE Select | NP_000534.3:p.Met566Val | |
| NM_001007593.3:c.1693A>G | NP_001007594.2:p.Met565Val | |
| NM_001318087.2:c.*189A>G | NP_001305016.1:n.*189A>G | |
| NM_001318088.2:c.775A>G | NP_001305017.1:p.Met259Val | |
| NM_001365135.2:c.1564A>G | NP_001352064.1:p.Met522Val | |
| NR_027400.3:n.1649A>G | ||
| NR_134502.2:n.1188A>G |