Linked Data
ClinVar Variation Id:
1206339
dbSNP Id:
rs551162125
ExAC:
16:2161620 G / A
gnomAD v2:
16-2161620-G-A
gnomAD v3:
16-2111619-G-A
gnomAD v4:
16-2111619-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111619G>A , CM000678.2:g.2111619G>A | GRCh38 |
| NC_000016.9:g.2161620G>A , CM000678.1:g.2161620G>A | GRCh37 |
| NC_000016.8:g.2101621G>A | NCBI36 |
| NG_008617.1:g.29280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3548C>T MANE Select | ENSP00000262304.4:p.Ser1183Leu | |
| ENST00000262304.8:c.3548C>T | ENSP00000262304.4:p.Ser1183Leu | |
| ENST00000415938.7:n.310+721C>T | ||
| ENST00000423118.5:c.3548C>T | ENSP00000399501.1:p.Ser1183Leu | |
| ENST00000468674.5:n.430+721C>T | ||
| ENST00000469241.2:n.498C>T | ||
| ENST00000483024.1:c.233+197C>T | ||
| ENST00000483731.5:n.790+721C>T | ||
| ENST00000488185.2:c.473-3261C>T | ||
| ENST00000565639.6:n.773+721C>T | ||
| ENST00000568591.5:c.2226+721C>T | ENSP00000457162.1:n.2226+721C>T | |
| ENST00000569983.5:n.421+721C>T | ||
| NM_000296.3:c.3548C>T | NP_000287.3:p.Ser1183Leu | |
| NM_001009944.2:c.3548C>T | NP_001009944.2:p.Ser1183Leu | |
| XM_005255370.2:c.503C>T | XP_005255427.1:p.Ser168Leu | |
| XM_011522525.1:c.3626C>T | XP_011520827.1:p.Ser1209Leu | |
| XM_011522526.1:c.3626C>T | XP_011520828.1:p.Ser1209Leu | |
| XM_011522527.1:c.3626C>T | XP_011520829.1:p.Ser1209Leu | |
| XM_011522528.1:c.3602C>T | XP_011520830.1:p.Ser1201Leu | |
| XM_011522529.1:c.3602C>T | XP_011520831.1:p.Ser1201Leu | |
| XM_011522530.1:c.3572C>T | XP_011520832.1:p.Ser1191Leu | |
| XM_011522531.1:c.3554C>T | XP_011520833.1:p.Ser1185Leu | |
| XM_011522532.1:c.3500C>T | XP_011520834.1:p.Ser1167Leu | |
| XM_011522533.1:c.3419C>T | XP_011520835.1:p.Ser1140Leu | |
| XM_011522534.1:c.3362C>T | XP_011520836.1:p.Ser1121Leu | |
| XM_011522535.1:c.1448C>T | XP_011520837.1:p.Ser483Leu | |
| XM_011522536.1:c.3626C>T | XP_011520838.1:p.Ser1209Leu | |
| XM_011522537.1:c.626C>T | XP_011520839.1:p.Ser209Leu | |
| XR_932867.1:n.3641C>T | ||
| XR_932868.1:n.3641C>T | ||
| XR_932869.1:n.3641C>T | ||
| XR_932870.1:n.3641C>T | ||
| XM_005255370.3:c.503C>T | XP_005255427.1:p.Ser168Leu | |
| XM_011522528.3:c.3602C>T | XP_011520830.1:p.Ser1201Leu | |
| XM_011522529.2:c.3602C>T | XP_011520831.1:p.Ser1201Leu | |
| XM_011522537.2:c.626C>T | XP_011520839.1:p.Ser209Leu | |
| XM_024450298.1:c.3668C>T | XP_024306066.1:p.Ser1223Leu | |
| XM_024450299.1:c.3596C>T | XP_024306067.1:p.Ser1199Leu | |
| XM_024450300.1:c.3458C>T | XP_024306068.1:p.Ser1153Leu | |
| XM_024450301.1:c.1544C>T | XP_024306069.1:p.Ser515Leu | |
| NM_000296.4:c.3548C>T | NP_000287.4:p.Ser1183Leu | |
| NM_001009944.3:c.3548C>T MANE Select | NP_001009944.3:p.Ser1183Leu |