Linked Data
ClinVar Variation Id:
8207
ClinVar RCV Id:
RCV000008690
dbSNP Id:
rs199476101
PubMed:
PMID:10364515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2109403G>A , CM000678.2:g.2109403G>A | GRCh38 |
| NC_000016.9:g.2159404G>A , CM000678.1:g.2159404G>A | GRCh37 |
| NC_000016.8:g.2099405G>A | NCBI36 |
| NG_008617.1:g.31496C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.5764C>T MANE Select | ENSP00000262304.4:p.Gln1922Ter | |
| ENST00000262304.8:c.5764C>T | ENSP00000262304.4:p.Gln1922Ter | |
| ENST00000415938.7:n.311-2455C>T | ||
| ENST00000423118.5:c.5764C>T | ENSP00000399501.1:p.Gln1922Ter | |
| ENST00000468674.5:n.431-53C>T | ||
| ENST00000483024.1:c.233+2413C>T | ||
| ENST00000483731.5:n.791-2455C>T | ||
| ENST00000487932.5:c.451C>T | ENSP00000457132.1:p.Gln151Ter | |
| ENST00000488185.2:c.473-1045C>T | ||
| ENST00000565639.6:n.774-2455C>T | ||
| ENST00000568591.5:c.2227-2455C>T | ENSP00000457162.1:n.2227-2455C>T | |
| ENST00000569983.5:n.422-2455C>T | ||
| NM_000296.3:c.5764C>T | NP_000287.3:p.Gln1922Ter | |
| NM_001009944.2:c.5764C>T | NP_001009944.2:p.Gln1922Ter | |
| XM_005255370.2:c.2719C>T | XP_005255427.1:p.Gln907Ter | |
| XM_011522525.1:c.5842C>T | XP_011520827.1:p.Gln1948Ter | |
| XM_011522526.1:c.5842C>T | XP_011520828.1:p.Gln1948Ter | |
| XM_011522527.1:c.5842C>T | XP_011520829.1:p.Gln1948Ter | |
| XM_011522528.1:c.5818C>T | XP_011520830.1:p.Gln1940Ter | |
| XM_011522529.1:c.5818C>T | XP_011520831.1:p.Gln1940Ter | |
| XM_011522530.1:c.5788C>T | XP_011520832.1:p.Gln1930Ter | |
| XM_011522531.1:c.5770C>T | XP_011520833.1:p.Gln1924Ter | |
| XM_011522532.1:c.5716C>T | XP_011520834.1:p.Gln1906Ter | |
| XM_011522533.1:c.5635C>T | XP_011520835.1:p.Gln1879Ter | |
| XM_011522534.1:c.5578C>T | XP_011520836.1:p.Gln1860Ter | |
| XM_011522535.1:c.3664C>T | XP_011520837.1:p.Gln1222Ter | |
| XM_011522536.1:c.5842C>T | XP_011520838.1:p.Gln1948Ter | |
| XM_011522537.1:c.2842C>T | XP_011520839.1:p.Gln948Ter | |
| XR_932867.1:n.5857C>T | ||
| XR_932868.1:n.5857C>T | ||
| XR_932869.1:n.5857C>T | ||
| XR_932870.1:n.5857C>T | ||
| XM_005255370.3:c.2719C>T | XP_005255427.1:p.Gln907Ter | |
| XM_011522528.3:c.5818C>T | XP_011520830.1:p.Gln1940Ter | |
| XM_011522529.2:c.5818C>T | XP_011520831.1:p.Gln1940Ter | |
| XM_011522537.2:c.2842C>T | XP_011520839.1:p.Gln948Ter | |
| XM_024450298.1:c.5884C>T | XP_024306066.1:p.Gln1962Ter | |
| XM_024450299.1:c.5812C>T | XP_024306067.1:p.Gln1938Ter | |
| XM_024450300.1:c.5674C>T | XP_024306068.1:p.Gln1892Ter | |
| XM_024450301.1:c.3760C>T | XP_024306069.1:p.Gln1254Ter | |
| NM_000296.4:c.5764C>T | NP_000287.4:p.Gln1922Ter | |
| NM_001009944.3:c.5764C>T MANE Select | NP_001009944.3:p.Gln1922Ter |