Linked Data
dbSNP Id:
rs1214783044
gnomAD v2:
19-35617794-G-A
gnomAD v3:
19-35126890-G-A
gnomAD v4:
19-35126890-G-A
COSMIC:
COSM1392795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35126890G>A , CM000681.2:g.35126890G>A | GRCh38 |
| NC_000019.9:g.35617794G>A , CM000681.1:g.35617794G>A | GRCh37 |
| NC_000019.8:g.40309634G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310123.8:c.756C>T MANE Select | ENSP00000312273.3:p.Tyr252= | |
| ENST00000310123.7:c.756C>T | ENSP00000312273.3:p.Tyr252= | |
| ENST00000392225.7:c.756C>T | ENSP00000376059.3:p.Tyr252= | |
| ENST00000493050.5:n.815C>T | ||
| ENST00000587780.5:c.491C>T | ||
| ENST00000591840.5:n.420-2024C>T | ||
| ENST00000593248.5:n.887C>T | ||
| NM_139284.2:c.756C>T | NP_644813.1:p.Tyr252= | |
| XM_011526594.1:c.756C>T | XP_011524896.1:p.Tyr252= | |
| XM_011526595.1:c.240C>T | XP_011524897.1:p.Tyr80= | |
| XM_011526595.2:c.240C>T | XP_011524897.1:p.Tyr80= | |
| XM_017026428.1:c.240C>T | XP_016881917.1:p.Tyr80= | |
| XM_017026429.1:c.240C>T | XP_016881918.1:p.Tyr80= | |
| XM_017026430.2:c.240C>T | XP_016881919.1:p.Tyr80= | |
| NM_139284.3:c.756C>T MANE Select | NP_644813.1:p.Tyr252= |