Linked Data
dbSNP Id:
rs754799404
ExAC:
2:157435666 G / A
gnomAD v2:
2-157435666-G-A
gnomAD v3:
2-156579154-G-A
gnomAD v4:
2-156579154-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156579154G>A , CM000664.2:g.156579154G>A | GRCh38 |
| NC_000002.11:g.157435666G>A , CM000664.1:g.157435666G>A | GRCh37 |
| NC_000002.10:g.157143912G>A | NCBI36 |
| NG_016606.1:g.148702G>A | |
| NG_016606.2:g.148702G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438166.7:c.1949G>A MANE Select | ENSP00000409708.2:p.Arg650His | |
| ENST00000310454.10:c.1949G>A | ENSP00000308610.5:p.Arg650His | |
| ENST00000409125.8:c.1571G>A | ENSP00000386484.5:p.Arg524His | |
| ENST00000409674.5:c.1949G>A | ENSP00000386425.1:p.Arg650His | |
| ENST00000409861.5:c.1949G>A | ENSP00000386626.1:p.Arg650His | |
| ENST00000438166.6:c.1949G>A | ENSP00000409708.2:p.Arg650His | |
| ENST00000464846.5:n.387G>A | ||
| ENST00000492005.1:n.72G>A | ||
| ENST00000540309.5:c.*63G>A | ENSP00000440892.1:n.*63G>A | |
| NM_000408.4:c.1949G>A | NP_000399.3:p.Arg650His | |
| NM_001083112.2:c.1949G>A | NP_001076581.2:p.Arg650His | |
| XM_005246469.1:c.1949G>A | XP_005246526.1:p.Arg650His | |
| XM_005246470.3:c.1847G>A | XP_005246527.1:p.Arg616His | |
| XM_011510977.1:c.1949G>A | XP_011509279.1:p.Arg650His | |
| XM_011510978.1:c.1847G>A | XP_011509280.1:p.Arg616His | |
| XM_011510979.1:c.1571G>A | XP_011509281.1:p.Arg524His | |
| XM_011510980.1:c.1268G>A | XP_011509282.1:p.Arg423His | |
| XM_005246469.2:c.1949G>A | XP_005246526.1:p.Arg650His | |
| XM_011510977.2:c.1949G>A | XP_011509279.1:p.Arg650His | |
| XM_011510978.2:c.1847G>A | XP_011509280.1:p.Arg616His | |
| XM_017003830.1:c.1949G>A | XP_016859319.1:p.Arg650His | |
| XM_024452798.1:c.1949G>A | XP_024308566.1:p.Arg650His | |
| NM_000408.5:c.1949G>A MANE Select | NP_000399.3:p.Arg650His | |
| NM_001083112.3:c.1949G>A | NP_001076581.2:p.Arg650His |