Linked Data
dbSNP Id:
rs768982301
ExAC:
16:2161595 C / T
gnomAD v2:
16-2161595-C-T
gnomAD v4:
16-2111594-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111594C>T , CM000678.2:g.2111594C>T | GRCh38 |
| NC_000016.9:g.2161595C>T , CM000678.1:g.2161595C>T | GRCh37 |
| NC_000016.8:g.2101596C>T | NCBI36 |
| NG_008617.1:g.29305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3573G>A MANE Select | ENSP00000262304.4:p.Leu1191= | |
| ENST00000262304.8:c.3573G>A | ENSP00000262304.4:p.Leu1191= | |
| ENST00000415938.7:n.310+746G>A | ||
| ENST00000423118.5:c.3573G>A | ENSP00000399501.1:p.Leu1191= | |
| ENST00000468674.5:n.430+746G>A | ||
| ENST00000469241.2:n.523G>A | ||
| ENST00000483024.1:c.233+222G>A | ||
| ENST00000483731.5:n.790+746G>A | ||
| ENST00000488185.2:c.473-3236G>A | ||
| ENST00000565639.6:n.773+746G>A | ||
| ENST00000568591.5:c.2226+746G>A | ENSP00000457162.1:n.2226+746G>A | |
| ENST00000569983.5:n.421+746G>A | ||
| NM_000296.3:c.3573G>A | NP_000287.3:p.Leu1191= | |
| NM_001009944.2:c.3573G>A | NP_001009944.2:p.Leu1191= | |
| XM_005255370.2:c.528G>A | XP_005255427.1:p.Leu176= | |
| XM_011522525.1:c.3651G>A | XP_011520827.1:p.Leu1217= | |
| XM_011522526.1:c.3651G>A | XP_011520828.1:p.Leu1217= | |
| XM_011522527.1:c.3651G>A | XP_011520829.1:p.Leu1217= | |
| XM_011522528.1:c.3627G>A | XP_011520830.1:p.Leu1209= | |
| XM_011522529.1:c.3627G>A | XP_011520831.1:p.Leu1209= | |
| XM_011522530.1:c.3597G>A | XP_011520832.1:p.Leu1199= | |
| XM_011522531.1:c.3579G>A | XP_011520833.1:p.Leu1193= | |
| XM_011522532.1:c.3525G>A | XP_011520834.1:p.Leu1175= | |
| XM_011522533.1:c.3444G>A | XP_011520835.1:p.Leu1148= | |
| XM_011522534.1:c.3387G>A | XP_011520836.1:p.Leu1129= | |
| XM_011522535.1:c.1473G>A | XP_011520837.1:p.Leu491= | |
| XM_011522536.1:c.3651G>A | XP_011520838.1:p.Leu1217= | |
| XM_011522537.1:c.651G>A | XP_011520839.1:p.Leu217= | |
| XR_932867.1:n.3666G>A | ||
| XR_932868.1:n.3666G>A | ||
| XR_932869.1:n.3666G>A | ||
| XR_932870.1:n.3666G>A | ||
| XM_005255370.3:c.528G>A | XP_005255427.1:p.Leu176= | |
| XM_011522528.3:c.3627G>A | XP_011520830.1:p.Leu1209= | |
| XM_011522529.2:c.3627G>A | XP_011520831.1:p.Leu1209= | |
| XM_011522537.2:c.651G>A | XP_011520839.1:p.Leu217= | |
| XM_024450298.1:c.3693G>A | XP_024306066.1:p.Leu1231= | |
| XM_024450299.1:c.3621G>A | XP_024306067.1:p.Leu1207= | |
| XM_024450300.1:c.3483G>A | XP_024306068.1:p.Leu1161= | |
| XM_024450301.1:c.1569G>A | XP_024306069.1:p.Leu523= | |
| NM_000296.4:c.3573G>A | NP_000287.4:p.Leu1191= | |
| NM_001009944.3:c.3573G>A MANE Select | NP_001009944.3:p.Leu1191= |