Linked Data
ClinVar Variation Id:
4881
ClinVar RCV Id:
RCV000005157
dbSNP Id:
rs119481080
PubMed:
PMID:11158067
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96240777C>T , CM000671.2:g.96240777C>T | GRCh38 |
| NC_000009.11:g.99003059C>T , CM000671.1:g.99003059C>T | GRCh37 |
| NC_000009.10:g.98042880C>T | NCBI36 |
| NG_008157.1:g.66376G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375262.4:c.672+3552G>A | ENSP00000364411.2:n.672+3552G>A | |
| ENST00000375263.8:c.803G>A MANE Select | ENSP00000364412.3:p.Cys268Tyr | |
| ENST00000463517.2:n.2345G>A | ||
| ENST00000464104.6:n.1741G>A | ||
| ENST00000467499.6:c.*502G>A | ENSP00000498077.1:n.*502G>A | |
| ENST00000484816.2:n.154G>A | ||
| ENST00000494814.6:n.353G>A | ||
| ENST00000643789.1:c.3095G>A | ||
| ENST00000648146.1:c.803G>A | ENSP00000497238.1:p.Cys268Tyr | |
| ENST00000648332.1:c.480G>A | ENSP00000497562.1:n.480G>A | |
| ENST00000648799.1:c.695G>A | ENSP00000498039.1:p.Cys232Tyr | |
| ENST00000650005.1:c.732G>A | ENSP00000498121.1:n.732G>A | |
| ENST00000375262.3:c.672+3552G>A | ENSP00000364411.2:n.672+3552G>A | |
| ENST00000375263.7:c.803G>A | ENSP00000364412.3:p.Cys268Tyr | |
| ENST00000464104.5:n.656G>A | ||
| ENST00000484816.1:n.153G>A | ||
| ENST00000494814.5:n.362G>A | ||
| NM_000197.1:c.803G>A | NP_000188.1:p.Cys268Tyr | |
| XM_005251970.3:c.443G>A | XP_005252027.1:p.Cys148Tyr | |
| XM_011518618.1:c.803G>A | XP_011516920.1:p.Cys268Tyr | |
| XM_011518619.1:c.803G>A | XP_011516921.1:p.Cys268Tyr | |
| XM_011518620.1:c.695G>A | XP_011516922.1:p.Cys232Tyr | |
| NM_000197.2:c.803G>A MANE Select | NP_000188.1:p.Cys268Tyr | |
| XM_011518618.2:c.803G>A | XP_011516920.1:p.Cys268Tyr | |
| XM_011518619.2:c.803G>A | XP_011516921.1:p.Cys268Tyr | |
| XM_017014671.1:c.803G>A | XP_016870160.1:p.Cys268Tyr | |
| XM_017014672.1:c.803G>A | XP_016870161.1:p.Cys268Tyr | |
| XM_017014673.2:c.767G>A | XP_016870162.1:p.Cys256Tyr | |
| XM_017014674.1:c.695G>A | XP_016870163.1:p.Cys232Tyr | |
| XM_017014675.1:c.641G>A | XP_016870164.1:p.Cys214Tyr | |
| XM_017014677.1:c.443G>A | XP_016870166.1:p.Cys148Tyr | |
| XM_024447529.1:c.641G>A | XP_024303297.1:p.Cys214Tyr | |
| XR_002956778.1:n.3275G>A |