Linked Data
ClinVar Variation Id:
440101
ClinVar RCV Id:
RCV000508398
dbSNP Id:
rs1342647727
gnomAD v2:
16-2156535-C-A
gnomAD v4:
16-2106534-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106534C>A , CM000678.2:g.2106534C>A | GRCh38 |
| NC_000016.9:g.2156535C>A , CM000678.1:g.2156535C>A | GRCh37 |
| NC_000016.8:g.2096536C>A | NCBI36 |
| NG_008617.1:g.34365G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7353G>T MANE Select | ENSP00000262304.4:p.Leu2451= | |
| ENST00000262304.8:c.7353G>T | ENSP00000262304.4:p.Leu2451= | |
| ENST00000415938.7:n.598G>T | ||
| ENST00000423118.5:c.7353G>T | ENSP00000399501.1:p.Leu2451= | |
| ENST00000483558.5:n.412G>T | ||
| ENST00000483731.5:n.1078G>T | ||
| ENST00000486339.6:n.1099G>T | ||
| ENST00000487932.5:c.2040G>T | ENSP00000457132.1:p.Leu680= | |
| ENST00000496574.6:n.1356G>T | ||
| ENST00000565639.6:n.1061G>T | ||
| ENST00000568591.5:c.2514G>T | ENSP00000457162.1:n.2514G>T | |
| ENST00000569983.5:n.709G>T | ||
| NM_000296.3:c.7353G>T | NP_000287.3:p.Leu2451= | |
| NM_001009944.2:c.7353G>T | NP_001009944.2:p.Leu2451= | |
| XM_005255370.2:c.4308G>T | XP_005255427.1:p.Leu1436= | |
| XM_011522525.1:c.7431G>T | XP_011520827.1:p.Leu2477= | |
| XM_011522526.1:c.7431G>T | XP_011520828.1:p.Leu2477= | |
| XM_011522527.1:c.7431G>T | XP_011520829.1:p.Leu2477= | |
| XM_011522528.1:c.7407G>T | XP_011520830.1:p.Leu2469= | |
| XM_011522529.1:c.7407G>T | XP_011520831.1:p.Leu2469= | |
| XM_011522530.1:c.7377G>T | XP_011520832.1:p.Leu2459= | |
| XM_011522531.1:c.7359G>T | XP_011520833.1:p.Leu2453= | |
| XM_011522532.1:c.7305G>T | XP_011520834.1:p.Leu2435= | |
| XM_011522533.1:c.7224G>T | XP_011520835.1:p.Leu2408= | |
| XM_011522534.1:c.7167G>T | XP_011520836.1:p.Leu2389= | |
| XM_011522535.1:c.5253G>T | XP_011520837.1:p.Leu1751= | |
| XM_011522536.1:c.7431G>T | XP_011520838.1:p.Leu2477= | |
| XM_011522537.1:c.4431G>T | XP_011520839.1:p.Leu1477= | |
| XR_932867.1:n.7446G>T | ||
| XR_932868.1:n.7446G>T | ||
| XR_932869.1:n.7446G>T | ||
| XR_932870.1:n.7446G>T | ||
| XM_005255370.3:c.4308G>T | XP_005255427.1:p.Leu1436= | |
| XM_011522528.3:c.7407G>T | XP_011520830.1:p.Leu2469= | |
| XM_011522529.2:c.7407G>T | XP_011520831.1:p.Leu2469= | |
| XM_011522537.2:c.4431G>T | XP_011520839.1:p.Leu1477= | |
| XM_024450298.1:c.7473G>T | XP_024306066.1:p.Leu2491= | |
| XM_024450299.1:c.7401G>T | XP_024306067.1:p.Leu2467= | |
| XM_024450300.1:c.7263G>T | XP_024306068.1:p.Leu2421= | |
| XM_024450301.1:c.5349G>T | XP_024306069.1:p.Leu1783= | |
| NM_000296.4:c.7353G>T | NP_000287.4:p.Leu2451= | |
| NM_001009944.3:c.7353G>T MANE Select | NP_001009944.3:p.Leu2451= |