Linked Data
dbSNP Id:
rs751852435
ExAC:
2:27597947 G / A
gnomAD v2:
2-27597947-G-A
gnomAD v3:
2-27375080-G-A
gnomAD v4:
2-27375080-G-A
COSMIC:
COSM6291909
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27375080G>A , CM000664.2:g.27375080G>A | GRCh38 |
| NC_000002.11:g.27597947G>A , CM000664.1:g.27597947G>A | GRCh37 |
| NC_000002.10:g.27451451G>A | NCBI36 |
| NG_009305.1:g.378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233575.7:c.701G>A MANE Select | ENSP00000233575.2:p.Arg234His | |
| ENST00000233575.6:c.701G>A | ENSP00000233575.2:p.Arg234His | |
| ENST00000427123.5:c.*511G>A | ENSP00000405399.1:n.*511G>A | |
| ENST00000440760.5:c.*546G>A | ENSP00000399727.1:n.*546G>A | |
| ENST00000453453.1:c.*228G>A | ENSP00000401922.1:n.*228G>A | |
| ENST00000493711.1:n.418G>A | ||
| ENST00000494893.5:n.877G>A | ||
| ENST00000537606.5:c.626G>A | ENSP00000439208.1:p.Arg209His | |
| NM_001267059.1:c.665G>A | NP_001253988.1:p.Arg222His | |
| NM_001267060.1:c.626G>A | NP_001253989.1:p.Arg209His | |
| NM_001267061.1:c.641G>A | NP_001253990.1:p.Arg214His | |
| NM_014748.3:c.701G>A | NP_055563.1:p.Arg234His | |
| NR_049782.1:n.1074G>A | ||
| NR_049783.1:n.1047G>A | ||
| NR_049784.1:n.1023G>A | ||
| NR_049785.1:n.956G>A | ||
| NR_049786.1:n.905G>A | ||
| NR_049787.1:n.756G>A | ||
| NR_049788.1:n.686G>A | ||
| XM_011533203.1:c.59G>A | XP_011531505.1:p.Arg20His | |
| XM_011533203.2:c.59G>A | XP_011531505.1:p.Arg20His | |
| XM_017005405.2:c.59G>A | XP_016860894.1:p.Arg20His | |
| NM_014748.4:c.701G>A MANE Select | NP_055563.1:p.Arg234His | |
| NM_001267059.2:c.665G>A | NP_001253988.1:p.Arg222His | |
| NM_001267061.2:c.641G>A | NP_001253990.1:p.Arg214His | |
| NR_049782.2:n.954G>A | ||
| NR_049783.2:n.927G>A | ||
| NR_049784.2:n.903G>A | ||
| NR_049785.2:n.836G>A | ||
| NR_049786.2:n.785G>A | ||
| NR_049787.2:n.636G>A | ||
| NR_049788.2:n.566G>A | ||
| NM_001267060.2:c.626G>A | NP_001253989.1:p.Arg209His |