Linked Data
ClinVar Variation Id:
433402
ClinVar RCV Id:
RCV000499342
dbSNP Id:
rs1315925055
PubMed:
PMID:11439001
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16208841G>C , CM000678.2:g.16208841G>C | GRCh38 |
| NC_000016.9:g.16302698G>C , CM000678.1:g.16302698G>C | GRCh37 |
| NC_000016.8:g.16210199G>C | NCBI36 |
| NG_007558.2:g.19631C>G | |
| NG_007558.3:g.19777C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574094.6:c.681C>G | ENSP00000507301.1:p.Tyr227Ter | |
| ENST00000622290.5:c.681C>G | ENSP00000483331.2:p.Tyr227Ter | |
| ENST00000205557.12:c.681C>G MANE Select | ENSP00000205557.7:p.Tyr227Ter | |
| ENST00000205557.11:c.681C>G | ENSP00000205557.7:p.Tyr227Ter | |
| ENST00000456970.6:c.681C>G | ENSP00000405002.2:p.Tyr227Ter | |
| ENST00000574094.5:n.777C>G | ||
| ENST00000577103.1:c.*548C>G | ENSP00000459243.1:n.*548C>G | |
| ENST00000622290.4:c.681C>G | ENSP00000483331.1:p.Tyr227Ter | |
| NM_001171.5:c.681C>G | NP_001162.4:p.Tyr227Ter | |
| XM_011522479.1:c.681C>G | XP_011520781.1:p.Tyr227Ter | |
| XM_011522480.1:c.339C>G | XP_011520782.1:p.Tyr113Ter | |
| XM_011522481.1:c.339C>G | XP_011520783.1:p.Tyr113Ter | |
| XM_011522482.1:c.681C>G | XP_011520784.1:p.Tyr227Ter | |
| XR_932836.1:n.916C>G | ||
| XR_932837.1:n.917C>G | ||
| XR_932838.1:n.917C>G | ||
| XR_933131.1:n.97-13G>C | ||
| XR_933132.1:n.97-13G>C | ||
| NM_001351800.1:c.339C>G | NP_001338729.1:p.Tyr113Ter | |
| NR_147784.1:n.718C>G | ||
| XM_011522479.2:c.681C>G | XP_011520781.1:p.Tyr227Ter | |
| XM_011522481.3:c.339C>G | XP_011520783.1:p.Tyr113Ter | |
| XM_011522482.3:c.681C>G | XP_011520784.1:p.Tyr227Ter | |
| XM_017023212.1:c.681C>G | XP_016878701.1:p.Tyr227Ter | |
| XM_017023214.1:c.681C>G | XP_016878703.1:p.Tyr227Ter | |
| XM_024450261.1:c.717C>G | XP_024306029.1:p.Tyr239Ter | |
| XR_001752340.1:n.105-13G>C | ||
| XR_001752341.1:n.105-13G>C | ||
| XR_001752342.1:n.105-13G>C | ||
| XR_932836.2:n.862C>G | ||
| XR_932837.3:n.862C>G | ||
| XR_932838.3:n.862C>G | ||
| XR_933131.2:n.105-13G>C | ||
| XR_933132.2:n.105-13G>C | ||
| NM_001171.6:c.681C>G MANE Select | NP_001162.5:p.Tyr227Ter |