Linked Data
ClinVar Variation Id:
226443
ClinVar RCV Id:
RCV000213866
dbSNP Id:
rs1057519383
gnomAD v4:
5-90790948-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90790948G>T , CM000667.2:g.90790948G>T | GRCh38 |
| NC_000005.9:g.90086765G>T , CM000667.1:g.90086765G>T | GRCh37 |
| NC_000005.8:g.90122521G>T | NCBI36 |
| NG_007083.1:g.237149G>T | |
| NG_007083.2:g.266605G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.14119G>T MANE Select | ENSP00000384582.2:p.Asp4707Tyr | |
| ENST00000425867.3:c.3073G>T | ENSP00000392618.3:p.Asp1025Tyr | |
| ENST00000638510.1:n.1386G>T | ||
| ENST00000638975.1:c.748G>T | ENSP00000492630.1:p.Asp250Tyr | |
| ENST00000639431.1:c.265+114739G>T | ENSP00000491057.1:n.265+114739G>T | |
| ENST00000640407.1:c.529G>T | ENSP00000491425.1:p.Asp177Tyr | |
| ENST00000405460.6:c.14119G>T | ENSP00000384582.2:p.Asp4707Tyr | |
| ENST00000425867.2:c.1102G>T | ENSP00000392618.2:p.Asp368Tyr | |
| NM_032119.3:c.14119G>T | NP_115495.3:p.Asp4707Tyr | |
| NR_003149.1:n.14132G>T | ||
| XM_011543675.1:c.14116G>T | XP_011541977.1:p.Asp4706Tyr | |
| XM_011543676.1:c.14038G>T | XP_011541978.1:p.Asp4680Tyr | |
| XM_011543677.1:c.11422G>T | XP_011541979.1:p.Asp3808Tyr | |
| XM_011543678.1:c.14119G>T | XP_011541980.1:p.Asp4707Tyr | |
| NM_032119.4:c.14119G>T MANE Select | NP_115495.3:p.Asp4707Tyr | |
| XM_017009963.2:c.14140G>T | XP_016865452.1:p.Asp4714Tyr | |
| XM_017009964.2:c.14137G>T | XP_016865453.1:p.Asp4713Tyr | |
| XM_017009965.1:c.14137G>T | XP_016865454.1:p.Asp4713Tyr | |
| XM_017009966.2:c.14059G>T | XP_016865455.1:p.Asp4687Tyr | |
| XM_017009967.1:c.14044G>T | XP_016865456.1:p.Asp4682Tyr | |
| XM_017009968.2:c.14140G>T | XP_016865457.1:p.Asp4714Tyr | |
| XM_017009969.2:c.14140G>T | XP_016865458.1:p.Asp4714Tyr | |
| XM_017009970.2:c.14140G>T | XP_016865459.1:p.Asp4714Tyr | |
| XM_017009971.2:c.14140G>T | XP_016865460.1:p.Asp4714Tyr | |
| XM_017009972.1:c.7258G>T | XP_016865461.1:p.Asp2420Tyr | |
| XM_017009973.1:c.7237G>T | XP_016865462.1:p.Asp2413Tyr | |
| NR_003149.2:n.14135G>T |