Linked Data
ClinVar Variation Id:
12033
ClinVar RCV Id:
RCV000012813
dbSNP Id:
rs121964949
ExAC:
4:187157943 C / T
gnomAD v2:
4-187157943-C-T
gnomAD v3:
4-186236789-C-T
gnomAD v4:
4-186236789-C-T
PubMed:
PMID:15461630
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186236789C>T , CM000666.2:g.186236789C>T | GRCh38 |
| NC_000004.11:g.187157943C>T , CM000666.1:g.187157943C>T | GRCh37 |
| NC_000004.10:g.187394937C>T | NCBI36 |
| NG_012095.2:g.32811C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264690.11:c.337C>T MANE Select | ENSP00000264690.6:p.Arg113Ter | |
| ENST00000264690.10:c.337C>T | ENSP00000264690.6:p.Arg113Ter | |
| ENST00000428196.5:c.337C>T | ENSP00000412366.1:p.Arg113Ter | |
| ENST00000446598.6:c.223C>T | ENSP00000415563.2:p.Arg75Ter | |
| ENST00000511406.5:n.367C>T | ||
| ENST00000511608.5:c.480C>T | ||
| ENST00000513864.2:c.223C>T | ENSP00000424469.2:p.Arg75Ter | |
| NM_000892.3:c.337C>T | NP_000883.2:p.Arg113Ter | |
| XM_011531930.1:c.337C>T | XP_011530232.1:p.Arg113Ter | |
| XM_011531931.1:c.337C>T | XP_011530233.1:p.Arg113Ter | |
| XM_011531932.1:c.223C>T | XP_011530234.1:p.Arg75Ter | |
| XM_011531933.1:c.223C>T | XP_011530235.1:p.Arg75Ter | |
| XM_011531934.1:c.-301C>T | XP_011530236.1:n.-301C>T | |
| NM_000892.4:c.337C>T | NP_000883.2:p.Arg113Ter | |
| NM_001318394.1:c.223C>T | NP_001305323.1:p.Arg75Ter | |
| NM_001318396.1:c.-301C>T | NP_001305325.1:n.-301C>T | |
| XM_011531930.2:c.337C>T | XP_011530232.1:p.Arg113Ter | |
| XM_017008181.1:c.337C>T | XP_016863670.1:p.Arg113Ter | |
| XM_017008182.1:c.337C>T | XP_016863671.1:p.Arg113Ter | |
| XM_017008183.1:c.337C>T | XP_016863672.1:p.Arg113Ter | |
| NM_000892.5:c.337C>T MANE Select | NP_000883.2:p.Arg113Ter | |
| NM_001318394.2:c.223C>T | NP_001305323.1:p.Arg75Ter | |
| NM_001318396.2:c.-301C>T | NP_001305325.1:n.-301C>T |