Linked Data
ClinVar Variation Id:
369967
ClinVar RCV Id:
RCV000408798
dbSNP Id:
rs1057516206
gnomAD v4:
16-2111624-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111624A>T , CM000678.2:g.2111624A>T | GRCh38 |
| NC_000016.9:g.2161625A>T , CM000678.1:g.2161625A>T | GRCh37 |
| NC_000016.8:g.2101626A>T | NCBI36 |
| NG_008617.1:g.29275T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.3543T>A MANE Select | ENSP00000262304.4:p.Tyr1181Ter | |
| ENST00000262304.8:c.3543T>A | ENSP00000262304.4:p.Tyr1181Ter | |
| ENST00000415938.7:n.310+716T>A | ||
| ENST00000423118.5:c.3543T>A | ENSP00000399501.1:p.Tyr1181Ter | |
| ENST00000468674.5:n.430+716T>A | ||
| ENST00000469241.2:n.493T>A | ||
| ENST00000483024.1:c.233+192T>A | ||
| ENST00000483731.5:n.790+716T>A | ||
| ENST00000488185.2:c.473-3266T>A | ||
| ENST00000565639.6:n.773+716T>A | ||
| ENST00000568591.5:c.2226+716T>A | ENSP00000457162.1:n.2226+716T>A | |
| ENST00000569983.5:n.421+716T>A | ||
| NM_000296.3:c.3543T>A | NP_000287.3:p.Tyr1181Ter | |
| NM_001009944.2:c.3543T>A | NP_001009944.2:p.Tyr1181Ter | |
| XM_005255370.2:c.498T>A | XP_005255427.1:p.Tyr166Ter | |
| XM_011522525.1:c.3621T>A | XP_011520827.1:p.Tyr1207Ter | |
| XM_011522526.1:c.3621T>A | XP_011520828.1:p.Tyr1207Ter | |
| XM_011522527.1:c.3621T>A | XP_011520829.1:p.Tyr1207Ter | |
| XM_011522528.1:c.3597T>A | XP_011520830.1:p.Tyr1199Ter | |
| XM_011522529.1:c.3597T>A | XP_011520831.1:p.Tyr1199Ter | |
| XM_011522530.1:c.3567T>A | XP_011520832.1:p.Tyr1189Ter | |
| XM_011522531.1:c.3549T>A | XP_011520833.1:p.Tyr1183Ter | |
| XM_011522532.1:c.3495T>A | XP_011520834.1:p.Tyr1165Ter | |
| XM_011522533.1:c.3414T>A | XP_011520835.1:p.Tyr1138Ter | |
| XM_011522534.1:c.3357T>A | XP_011520836.1:p.Tyr1119Ter | |
| XM_011522535.1:c.1443T>A | XP_011520837.1:p.Tyr481Ter | |
| XM_011522536.1:c.3621T>A | XP_011520838.1:p.Tyr1207Ter | |
| XM_011522537.1:c.621T>A | XP_011520839.1:p.Tyr207Ter | |
| XR_932867.1:n.3636T>A | ||
| XR_932868.1:n.3636T>A | ||
| XR_932869.1:n.3636T>A | ||
| XR_932870.1:n.3636T>A | ||
| XM_005255370.3:c.498T>A | XP_005255427.1:p.Tyr166Ter | |
| XM_011522528.3:c.3597T>A | XP_011520830.1:p.Tyr1199Ter | |
| XM_011522529.2:c.3597T>A | XP_011520831.1:p.Tyr1199Ter | |
| XM_011522537.2:c.621T>A | XP_011520839.1:p.Tyr207Ter | |
| XM_024450298.1:c.3663T>A | XP_024306066.1:p.Tyr1221Ter | |
| XM_024450299.1:c.3591T>A | XP_024306067.1:p.Tyr1197Ter | |
| XM_024450300.1:c.3453T>A | XP_024306068.1:p.Tyr1151Ter | |
| XM_024450301.1:c.1539T>A | XP_024306069.1:p.Tyr513Ter | |
| NM_000296.4:c.3543T>A | NP_000287.4:p.Tyr1181Ter | |
| NM_001009944.3:c.3543T>A MANE Select | NP_001009944.3:p.Tyr1181Ter |