Linked Data
ClinVar Variation Id:
627172
dbSNP Id:
rs199469503
ExAC:
3:93596000 A / T
gnomAD v2:
3-93596000-A-T
gnomAD v3:
3-93877156-A-T
gnomAD v4:
3-93877156-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93877156A>T , CM000665.2:g.93877156A>T | GRCh38 |
| NC_000003.11:g.93596000A>T , CM000665.1:g.93596000A>T | GRCh37 |
| NC_000003.10:g.95078690A>T | NCBI36 |
| NG_009813.1:g.101935T>A , LRG_572:g.101935T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.1680T>A | ENSP00000330021.7:p.Tyr560Ter | |
| ENST00000394236.9:c.1680T>A MANE Select | ENSP00000377783.3:p.Tyr560Ter | |
| ENST00000407433.6:c.1635T>A | ENSP00000385794.2:p.Tyr545Ter | |
| ENST00000647936.1:c.1644+2007T>A | ENSP00000496822.1:n.1644+2007T>A | |
| ENST00000648381.1:n.1848T>A | ||
| ENST00000648853.1:c.1638T>A | ENSP00000497262.1:p.Tyr546Ter | |
| ENST00000649103.1:c.1779T>A | ENSP00000497962.1:n.1779T>A | |
| ENST00000649585.1:c.623T>A | ENSP00000498163.1:n.623T>A | |
| ENST00000650591.1:c.1776T>A | ENSP00000497376.1:p.Tyr592Ter | |
| ENST00000394236.7:c.1680T>A | ENSP00000377783.3:p.Tyr560Ter | |
| ENST00000407433.5:c.1287T>A | ENSP00000385794.1:p.Tyr429Ter | |
| NM_000313.3:c.1680T>A , LRG_572t1:c.1680T>A | NP_000304.2:p.Tyr560Ter | |
| NM_001314077.1:c.1776T>A , LRG_572t2:c.1776T>A | NP_001301006.1:p.Tyr592Ter | |
| NM_000313.4:c.1680T>A MANE Select | NP_000304.2:p.Tyr560Ter | |
| NM_001314077.2:c.1776T>A | NP_001301006.1:p.Tyr592Ter |