Linked Data
ClinVar Variation Id:
1304034
ClinVar RCV Id:
RCV001758327
dbSNP Id:
rs1339511647
gnomAD v3:
17-50185546-C-A
gnomAD v4:
17-50185546-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185546C>A , CM000679.2:g.50185546C>A | GRCh38 |
| NC_000017.10:g.48262907C>A , CM000679.1:g.48262907C>A | GRCh37 |
| NC_000017.9:g.45617906C>A | NCBI36 |
| NG_007400.1:g.21094G>T , LRG_1:g.21094G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4351G>T MANE Select | ENSP00000225964.6:p.Asp1451Tyr | |
| ENST00000225964.9:c.4351G>T | ENSP00000225964.5:p.Asp1451Tyr | |
| NM_000088.3:c.4351G>T , LRG_1t1:c.4351G>T | NP_000079.2:p.Asp1451Tyr | |
| XM_005257058.3:c.4081G>T | XP_005257115.2:p.Asp1361Tyr | |
| XM_005257059.3:c.3433G>T | XP_005257116.2:p.Asp1145Tyr | |
| XM_011524341.1:c.4153G>T | XP_011522643.1:p.Asp1385Tyr | |
| XM_005257058.4:c.4081G>T | XP_005257115.2:p.Asp1361Tyr | |
| XM_005257059.4:c.3433G>T | XP_005257116.2:p.Asp1145Tyr | |
| NM_000088.4:c.4351G>T MANE Select | NP_000079.2:p.Asp1451Tyr |