Linked Data
ClinVar Variation Id:
8200
ClinVar RCV Id:
RCV000008683
dbSNP Id:
rs199476097
PubMed:
PMID:8792818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090468A>T , CM000678.2:g.2090468A>T | GRCh38 |
| NC_000016.9:g.2140469A>T , CM000678.1:g.2140469A>T | GRCh37 |
| NC_000016.8:g.2080470A>T | NCBI36 |
| NG_005895.1:g.46163A>T , LRG_487:g.46163A>T | |
| NG_008617.1:g.52753T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.12261T>A MANE Select | ENSP00000262304.4:p.Cys4087Ter | |
| ENST00000262304.8:c.12261T>A | ENSP00000262304.4:p.Cys4087Ter | |
| ENST00000423118.5:c.12258T>A | ENSP00000399501.1:p.Cys4086Ter | |
| ENST00000472577.1:n.289T>A | ||
| NM_000296.3:c.12258T>A | NP_000287.3:p.Cys4086Ter | |
| NM_001009944.2:c.12261T>A | NP_001009944.2:p.Cys4087Ter | |
| XM_005255370.2:c.9216T>A | XP_005255427.1:p.Cys3072Ter | |
| XM_011522525.1:c.12339T>A | XP_011520827.1:p.Cys4113Ter | |
| XM_011522526.1:c.12336T>A | XP_011520828.1:p.Cys4112Ter | |
| XM_011522527.1:c.12321T>A | XP_011520829.1:p.Cys4107Ter | |
| XM_011522528.1:c.12315T>A | XP_011520830.1:p.Cys4105Ter | |
| XM_011522529.1:c.12312T>A | XP_011520831.1:p.Cys4104Ter | |
| XM_011522530.1:c.12285T>A | XP_011520832.1:p.Cys4095Ter | |
| XM_011522531.1:c.12267T>A | XP_011520833.1:p.Cys4089Ter | |
| XM_011522532.1:c.12213T>A | XP_011520834.1:p.Cys4071Ter | |
| XM_011522533.1:c.12132T>A | XP_011520835.1:p.Cys4044Ter | |
| XM_011522534.1:c.12075T>A | XP_011520836.1:p.Cys4025Ter | |
| XM_011522535.1:c.10161T>A | XP_011520837.1:p.Cys3387Ter | |
| XM_011522537.1:c.9339T>A | XP_011520839.1:p.Cys3113Ter | |
| XR_932867.1:n.12179T>A | ||
| XM_005255370.3:c.9216T>A | XP_005255427.1:p.Cys3072Ter | |
| XM_011522528.3:c.12315T>A | XP_011520830.1:p.Cys4105Ter | |
| XM_011522529.2:c.12312T>A | XP_011520831.1:p.Cys4104Ter | |
| XM_011522537.2:c.9339T>A | XP_011520839.1:p.Cys3113Ter | |
| XM_024450298.1:c.12381T>A | XP_024306066.1:p.Cys4127Ter | |
| XM_024450299.1:c.12309T>A | XP_024306067.1:p.Cys4103Ter | |
| XM_024450300.1:c.12171T>A | XP_024306068.1:p.Cys4057Ter | |
| XM_024450301.1:c.10257T>A | XP_024306069.1:p.Cys3419Ter | |
| NM_000296.4:c.12258T>A | NP_000287.4:p.Cys4086Ter | |
| NM_001009944.3:c.12261T>A MANE Select | NP_001009944.3:p.Cys4087Ter |