Linked Data
ClinVar Variation Id:
30027
dbSNP Id:
rs397514463
COSMIC:
COSM4553325
PubMed:
PMID:19965921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.56802043C>A , CM000676.2:g.56802043C>A | GRCh38 |
| NC_000014.8:g.57268761C>A , CM000676.1:g.57268761C>A | GRCh37 |
| NC_000014.7:g.56338514C>A | NCBI36 |
| NG_008204.1:g.13424G>T | |
| NG_008204.2:g.19651G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554845.2:c.586G>T | ENSP00000451357.2:p.Gly196Ter | |
| ENST00000555804.2:c.562G>T | ENSP00000451272.2:p.Gly188Ter | |
| ENST00000685244.1:c.562G>T | ENSP00000508798.1:p.Gly188Ter | |
| ENST00000339475.10:c.562G>T | ENSP00000343819.5:p.Gly188Ter | |
| ENST00000408990.8:c.562G>T | ENSP00000386185.3:p.Gly188Ter | |
| ENST00000672125.1:c.361-162G>T | ENSP00000500744.1:n.361-162G>T | |
| ENST00000672264.2:c.586G>T MANE Select | ENSP00000500115.1:p.Gly196Ter | |
| ENST00000673035.1:c.562G>T | ENSP00000500061.1:p.Gly188Ter | |
| ENST00000673481.1:c.586G>T | ENSP00000500595.1:p.Gly196Ter | |
| ENST00000339475.9:c.586G>T | ENSP00000343819.4:p.Gly196Ter | |
| ENST00000408990.7:c.562G>T | ENSP00000386185.3:p.Gly188Ter | |
| ENST00000554559.5:c.*302G>T | ENSP00000450468.1:n.*302G>T | |
| ENST00000554788.5:c.*302G>T | ENSP00000474486.1:n.*302G>T | |
| ENST00000554845.1:c.586G>T | ENSP00000451357.1:p.Gly196Ter | |
| ENST00000555006.5:c.562G>T | ENSP00000452336.1:p.Gly188Ter | |
| NM_001270523.1:c.562G>T | NP_001257452.1:p.Gly188Ter | |
| NM_001270524.1:c.562G>T | NP_001257453.1:p.Gly188Ter | |
| NM_001270525.1:c.586G>T | NP_001257454.1:p.Gly196Ter | |
| NM_021728.3:c.586G>T | NP_068374.1:p.Gly196Ter | |
| NM_172337.2:c.562G>T | NP_758840.1:p.Gly188Ter | |
| NR_073034.1:n.694G>T | ||
| NR_073036.1:n.617G>T | ||
| NM_001270523.2:c.562G>T | NP_001257452.1:p.Gly188Ter | |
| NM_001270524.2:c.562G>T | NP_001257453.1:p.Gly188Ter | |
| NM_001270525.2:c.586G>T | NP_001257454.1:p.Gly196Ter | |
| NM_021728.4:c.586G>T MANE Select | NP_068374.1:p.Gly196Ter | |
| NM_172337.3:c.562G>T | NP_758840.1:p.Gly188Ter | |
| NR_073034.2:n.697G>T | ||
| NR_073036.2:n.621G>T |