Linked Data
ClinVar Variation Id:
256955
dbSNP Id:
rs375443604
ExAC:
16:2161643 C / T
gnomAD v2:
16-2161643-C-T
gnomAD v3:
16-2111642-C-T
gnomAD v4:
16-2111642-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111642C>T , CM000678.2:g.2111642C>T | GRCh38 |
| NC_000016.9:g.2161643C>T , CM000678.1:g.2161643C>T | GRCh37 |
| NC_000016.8:g.2101644C>T | NCBI36 |
| NG_008617.1:g.29257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3525G>A MANE Select | ENSP00000262304.4:p.Pro1175= | |
| ENST00000262304.8:c.3525G>A | ENSP00000262304.4:p.Pro1175= | |
| ENST00000415938.7:n.310+698G>A | ||
| ENST00000423118.5:c.3525G>A | ENSP00000399501.1:p.Pro1175= | |
| ENST00000468674.5:n.430+698G>A | ||
| ENST00000469241.2:n.475G>A | ||
| ENST00000483024.1:c.233+174G>A | ||
| ENST00000483731.5:n.790+698G>A | ||
| ENST00000488185.2:c.473-3284G>A | ||
| ENST00000565639.6:n.773+698G>A | ||
| ENST00000568591.5:c.2226+698G>A | ENSP00000457162.1:n.2226+698G>A | |
| ENST00000569983.5:n.421+698G>A | ||
| NM_000296.3:c.3525G>A | NP_000287.3:p.Pro1175= | |
| NM_001009944.2:c.3525G>A | NP_001009944.2:p.Pro1175= | |
| XM_005255370.2:c.480G>A | XP_005255427.1:p.Pro160= | |
| XM_011522525.1:c.3603G>A | XP_011520827.1:p.Pro1201= | |
| XM_011522526.1:c.3603G>A | XP_011520828.1:p.Pro1201= | |
| XM_011522527.1:c.3603G>A | XP_011520829.1:p.Pro1201= | |
| XM_011522528.1:c.3579G>A | XP_011520830.1:p.Pro1193= | |
| XM_011522529.1:c.3579G>A | XP_011520831.1:p.Pro1193= | |
| XM_011522530.1:c.3549G>A | XP_011520832.1:p.Pro1183= | |
| XM_011522531.1:c.3531G>A | XP_011520833.1:p.Pro1177= | |
| XM_011522532.1:c.3477G>A | XP_011520834.1:p.Pro1159= | |
| XM_011522533.1:c.3396G>A | XP_011520835.1:p.Pro1132= | |
| XM_011522534.1:c.3339G>A | XP_011520836.1:p.Pro1113= | |
| XM_011522535.1:c.1425G>A | XP_011520837.1:p.Pro475= | |
| XM_011522536.1:c.3603G>A | XP_011520838.1:p.Pro1201= | |
| XM_011522537.1:c.603G>A | XP_011520839.1:p.Pro201= | |
| XR_932867.1:n.3618G>A | ||
| XR_932868.1:n.3618G>A | ||
| XR_932869.1:n.3618G>A | ||
| XR_932870.1:n.3618G>A | ||
| XM_005255370.3:c.480G>A | XP_005255427.1:p.Pro160= | |
| XM_011522528.3:c.3579G>A | XP_011520830.1:p.Pro1193= | |
| XM_011522529.2:c.3579G>A | XP_011520831.1:p.Pro1193= | |
| XM_011522537.2:c.603G>A | XP_011520839.1:p.Pro201= | |
| XM_024450298.1:c.3645G>A | XP_024306066.1:p.Pro1215= | |
| XM_024450299.1:c.3573G>A | XP_024306067.1:p.Pro1191= | |
| XM_024450300.1:c.3435G>A | XP_024306068.1:p.Pro1145= | |
| XM_024450301.1:c.1521G>A | XP_024306069.1:p.Pro507= | |
| NM_000296.4:c.3525G>A | NP_000287.4:p.Pro1175= | |
| NM_001009944.3:c.3525G>A MANE Select | NP_001009944.3:p.Pro1175= |