Linked Data
dbSNP Id:
rs1310009773
gnomAD v2:
2-27598381-A-T
gnomAD v3:
2-27375514-A-T
gnomAD v4:
2-27375514-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27375514A>T , CM000664.2:g.27375514A>T | GRCh38 |
| NC_000002.11:g.27598381A>T , CM000664.1:g.27598381A>T | GRCh37 |
| NC_000002.10:g.27451885A>T | NCBI36 |
| NG_028219.1:g.10231T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233575.7:c.783A>T MANE Select | ENSP00000233575.2:p.Arg261Ser | |
| ENST00000233575.6:c.783A>T | ENSP00000233575.2:p.Arg261Ser | |
| ENST00000427123.5:c.*593A>T | ENSP00000405399.1:n.*593A>T | |
| ENST00000440760.5:c.*628A>T | ENSP00000399727.1:n.*628A>T | |
| ENST00000453453.1:c.*310A>T | ENSP00000401922.1:n.*310A>T | |
| ENST00000493711.1:n.500A>T | ||
| ENST00000494893.5:n.959A>T | ||
| ENST00000537606.5:c.708A>T | ENSP00000439208.1:p.Arg236Ser | |
| NM_001267059.1:c.747A>T | NP_001253988.1:p.Arg249Ser | |
| NM_001267060.1:c.708A>T | NP_001253989.1:p.Arg236Ser | |
| NM_001267061.1:c.723A>T | NP_001253990.1:p.Arg241Ser | |
| NM_014748.3:c.783A>T | NP_055563.1:p.Arg261Ser | |
| NR_049782.1:n.1156A>T | ||
| NR_049783.1:n.1129A>T | ||
| NR_049784.1:n.1105A>T | ||
| NR_049785.1:n.1038A>T | ||
| NR_049786.1:n.987A>T | ||
| NR_049787.1:n.838A>T | ||
| NR_049788.1:n.768A>T | ||
| XM_011533203.1:c.141A>T | XP_011531505.1:p.Arg47Ser | |
| XM_011533203.2:c.141A>T | XP_011531505.1:p.Arg47Ser | |
| XM_017005405.2:c.141A>T | XP_016860894.1:p.Arg47Ser | |
| NM_014748.4:c.783A>T MANE Select | NP_055563.1:p.Arg261Ser | |
| NM_001267059.2:c.747A>T | NP_001253988.1:p.Arg249Ser | |
| NM_001267061.2:c.723A>T | NP_001253990.1:p.Arg241Ser | |
| NR_049782.2:n.1036A>T | ||
| NR_049783.2:n.1009A>T | ||
| NR_049784.2:n.985A>T | ||
| NR_049785.2:n.918A>T | ||
| NR_049786.2:n.867A>T | ||
| NR_049787.2:n.718A>T | ||
| NR_049788.2:n.648A>T | ||
| NM_001267060.2:c.708A>T | NP_001253989.1:p.Arg236Ser |