Linked Data
ClinVar Variation Id:
2794230
ClinVar RCV Id:
RCV003760105
dbSNP Id:
rs1005244744
gnomAD v2:
9-137726991-G-T
gnomAD v4:
9-134835145-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134835145G>T , CM000671.2:g.134835145G>T | GRCh38 |
| NC_000009.11:g.137726991G>T , CM000671.1:g.137726991G>T | GRCh37 |
| NC_000009.10:g.136866812G>T | NCBI36 |
| NG_008030.1:g.198340G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5311G>T | ENSP00000360885.4:p.Asp1771Tyr | |
| ENST00000371817.8:c.5311G>T MANE Select | ENSP00000360882.3:p.Asp1771Tyr | |
| ENST00000371817.7:c.5311G>T | ENSP00000360882.3:p.Asp1771Tyr | |
| ENST00000371820.3:c.569G>T | ||
| ENST00000618395.4:c.5311G>T | ENSP00000481360.1:p.Asp1771Tyr | |
| NM_000093.4:c.5311G>T | NP_000084.3:p.Asp1771Tyr | |
| NM_001278074.1:c.5311G>T | NP_001265003.1:p.Asp1771Tyr | |
| NR_103451.2:n.71-14936C>A | ||
| NM_000093.5:c.5311G>T MANE Select | NP_000084.3:p.Asp1771Tyr |