Linked Data
ClinVar Variation Id:
1012174
ClinVar RCV Id:
RCV001580370
dbSNP Id:
rs2143699701
gnomAD v4:
16-56351477-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56351477G>T , CM000678.2:g.56351477G>T | GRCh38 |
| NC_000016.9:g.56385389G>T , CM000678.1:g.56385389G>T | GRCh37 |
| NC_000016.8:g.54942890G>T | NCBI36 |
| NG_042800.1:g.165139G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262493.12:c.817G>T MANE Select | ENSP00000262493.6:p.Asp273Tyr | |
| ENST00000562316.6:c.484G>T | ENSP00000457238.2:p.Asp162Tyr | |
| ENST00000564727.2:c.121G>T | ENSP00000454971.2:p.Asp41Tyr | |
| ENST00000568375.2:c.116-3389G>T | ||
| ENST00000638185.1:n.1032G>T | ||
| ENST00000638210.1:n.1117G>T | ||
| ENST00000638705.1:c.817G>T | ENSP00000491223.1:p.Asp273Tyr | |
| ENST00000638836.1:n.727G>T | ||
| ENST00000639055.1:n.1538G>T | ||
| ENST00000639251.1:n.718G>T | ||
| ENST00000639268.1:c.452G>T | ||
| ENST00000639341.1:c.342G>T | ||
| ENST00000639770.1:c.855G>T | ENSP00000491999.1:n.855G>T | |
| ENST00000640390.1:n.747G>T | ||
| ENST00000640469.1:c.181G>T | ENSP00000491875.1:p.Asp61Tyr | |
| ENST00000640560.1:n.593G>T | ||
| ENST00000640893.1:c.*215G>T | ENSP00000492677.1:n.*215G>T | |
| ENST00000262493.10:c.817G>T | ENSP00000262493.6:p.Asp273Tyr | |
| ENST00000564727.1:c.37G>T | ENSP00000454971.1:p.Asp13Tyr | |
| ENST00000568375.1:n.116-3389G>T | ||
| NM_020988.2:c.817G>T | NP_066268.1:p.Asp273Tyr | |
| XM_011523003.1:c.691G>T | XP_011521305.1:p.Asp231Tyr | |
| XM_011523003.3:c.691G>T | XP_011521305.1:p.Asp231Tyr | |
| NM_020988.3:c.817G>T MANE Select | NP_066268.1:p.Asp273Tyr |