Linked Data
ClinVar Variation Id:
6586
ClinVar RCV Id:
RCV000006964
dbSNP Id:
rs121908936
ExAC:
2:136564701 A / T
gnomAD v2:
2-136564701-A-T
gnomAD v3:
2-135807131-A-T
gnomAD v4:
2-135807131-A-T
PubMed:
PMID:16400612
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135807131A>T , CM000664.2:g.135807131A>T | GRCh38 |
| NC_000002.11:g.136564701A>T , CM000664.1:g.136564701A>T | GRCh37 |
| NC_000002.10:g.136281171A>T | NCBI36 |
| NG_008104.2:g.53039T>A , LRG_338:g.53039T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.4170T>A MANE Select | ENSP00000264162.2:p.Tyr1390Ter | |
| ENST00000264162.6:c.4170T>A | ENSP00000264162.2:p.Tyr1390Ter | |
| ENST00000452974.1:c.2466T>A | ENSP00000391231.1:p.Tyr822Ter | |
| NM_002299.2:c.4170T>A , LRG_338t1:c.4170T>A | NP_002290.2:p.Tyr1390Ter | |
| NM_002299.3:c.4170T>A | NP_002290.2:p.Tyr1390Ter | |
| XM_017004088.2:c.4170T>A | XP_016859577.1:p.Tyr1390Ter | |
| NM_002299.4:c.4170T>A MANE Select | NP_002290.2:p.Tyr1390Ter |