Linked Data
ClinVar Variation Id:
203816
dbSNP Id:
rs571038432
ExAC:
4:146576317 C / T
gnomAD v2:
4-146576317-C-T
gnomAD v3:
4-145655165-C-T
gnomAD v4:
4-145655165-C-T
PubMed:
PMID:20301409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145655165C>T , CM000666.2:g.145655165C>T | GRCh38 |
| NC_000004.11:g.146576317C>T , CM000666.1:g.146576317C>T | GRCh37 |
| NC_000004.10:g.146795767C>T | NCBI36 |
| NG_007536.1:g.40868C>T | |
| NG_007536.2:g.61124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541599.5:c.988C>T | ENSP00000442284.3:p.Arg330Ter | |
| ENST00000647947.1:c.*772C>T | ENSP00000496781.1:n.*772C>T | |
| ENST00000648388.1:c.988C>T | ENSP00000497046.1:p.Arg330Ter | |
| ENST00000649156.2:c.988C>T MANE Select | ENSP00000497008.1:p.Arg330Ter | |
| ENST00000649173.1:c.922C>T | ENSP00000497871.1:p.Arg308Ter | |
| ENST00000649704.1:c.988C>T | ENSP00000497680.1:p.Arg330Ter | |
| ENST00000679563.1:c.988C>T | ENSP00000506503.1:p.Arg330Ter | |
| ENST00000679930.1:c.*507C>T | ENSP00000506293.1:n.*507C>T | |
| ENST00000281317.9:c.988C>T | ENSP00000281317.5:p.Arg330Ter | |
| ENST00000503730.1:n.398C>T | ||
| ENST00000511969.4:c.*119C>T | ENSP00000427422.1:n.*119C>T | |
| ENST00000541599.4:c.988C>T | ENSP00000442284.2:p.Arg330Ter | |
| NM_172250.2:c.988C>T | NP_758454.1:p.Arg330Ter | |
| XM_011531684.1:c.988C>T | XP_011529986.1:p.Arg330Ter | |
| XM_011531685.1:c.988C>T | XP_011529987.1:p.Arg330Ter | |
| XM_011531686.1:c.493C>T | XP_011529988.1:p.Arg165Ter | |
| NM_172250.3:c.988C>T MANE Select | NP_758454.1:p.Arg330Ter | |
| XM_011531684.3:c.988C>T | XP_011529986.1:p.Arg330Ter | |
| XM_011531685.2:c.988C>T | XP_011529987.1:p.Arg330Ter | |
| XM_011531686.2:c.493C>T | XP_011529988.1:p.Arg165Ter | |
| NM_001375644.1:c.988C>T | NP_001362573.1:p.Arg330Ter |