Linked Data
ClinVar Variation Id:
92188
ClinVar RCV Id:
RCV000077804
dbSNP Id:
rs80360487
gnomAD v4:
16-2109510-G-A
COSMIC:
COSM4186506
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2109510G>A , CM000678.2:g.2109510G>A | GRCh38 |
| NC_000016.9:g.2159511G>A , CM000678.1:g.2159511G>A | GRCh37 |
| NC_000016.8:g.2099512G>A | NCBI36 |
| NG_008617.1:g.31389C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.5657C>T MANE Select | ENSP00000262304.4:p.Pro1886Leu | |
| ENST00000262304.8:c.5657C>T | ENSP00000262304.4:p.Pro1886Leu | |
| ENST00000415938.7:n.311-2562C>T | ||
| ENST00000423118.5:c.5657C>T | ENSP00000399501.1:p.Pro1886Leu | |
| ENST00000468674.5:n.431-160C>T | ||
| ENST00000483024.1:c.233+2306C>T | ||
| ENST00000483731.5:n.791-2562C>T | ||
| ENST00000487932.5:c.344C>T | ENSP00000457132.1:p.Pro115Leu | |
| ENST00000488185.2:c.473-1152C>T | ||
| ENST00000565639.6:n.774-2562C>T | ||
| ENST00000568591.5:c.2227-2562C>T | ENSP00000457162.1:n.2227-2562C>T | |
| ENST00000569983.5:n.422-2562C>T | ||
| NM_000296.3:c.5657C>T | NP_000287.3:p.Pro1886Leu | |
| NM_001009944.2:c.5657C>T | NP_001009944.2:p.Pro1886Leu | |
| XM_005255370.2:c.2612C>T | XP_005255427.1:p.Pro871Leu | |
| XM_011522525.1:c.5735C>T | XP_011520827.1:p.Pro1912Leu | |
| XM_011522526.1:c.5735C>T | XP_011520828.1:p.Pro1912Leu | |
| XM_011522527.1:c.5735C>T | XP_011520829.1:p.Pro1912Leu | |
| XM_011522528.1:c.5711C>T | XP_011520830.1:p.Pro1904Leu | |
| XM_011522529.1:c.5711C>T | XP_011520831.1:p.Pro1904Leu | |
| XM_011522530.1:c.5681C>T | XP_011520832.1:p.Pro1894Leu | |
| XM_011522531.1:c.5663C>T | XP_011520833.1:p.Pro1888Leu | |
| XM_011522532.1:c.5609C>T | XP_011520834.1:p.Pro1870Leu | |
| XM_011522533.1:c.5528C>T | XP_011520835.1:p.Pro1843Leu | |
| XM_011522534.1:c.5471C>T | XP_011520836.1:p.Pro1824Leu | |
| XM_011522535.1:c.3557C>T | XP_011520837.1:p.Pro1186Leu | |
| XM_011522536.1:c.5735C>T | XP_011520838.1:p.Pro1912Leu | |
| XM_011522537.1:c.2735C>T | XP_011520839.1:p.Pro912Leu | |
| XR_932867.1:n.5750C>T | ||
| XR_932868.1:n.5750C>T | ||
| XR_932869.1:n.5750C>T | ||
| XR_932870.1:n.5750C>T | ||
| XM_005255370.3:c.2612C>T | XP_005255427.1:p.Pro871Leu | |
| XM_011522528.3:c.5711C>T | XP_011520830.1:p.Pro1904Leu | |
| XM_011522529.2:c.5711C>T | XP_011520831.1:p.Pro1904Leu | |
| XM_011522537.2:c.2735C>T | XP_011520839.1:p.Pro912Leu | |
| XM_024450298.1:c.5777C>T | XP_024306066.1:p.Pro1926Leu | |
| XM_024450299.1:c.5705C>T | XP_024306067.1:p.Pro1902Leu | |
| XM_024450300.1:c.5567C>T | XP_024306068.1:p.Pro1856Leu | |
| XM_024450301.1:c.3653C>T | XP_024306069.1:p.Pro1218Leu | |
| NM_000296.4:c.5657C>T | NP_000287.4:p.Pro1886Leu | |
| NM_001009944.3:c.5657C>T MANE Select | NP_001009944.3:p.Pro1886Leu |