Linked Data
dbSNP Id:
rs1194716694
gnomAD v2:
16-2161611-G-A
gnomAD v3:
16-2111610-G-A
gnomAD v4:
16-2111610-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111610G>A , CM000678.2:g.2111610G>A | GRCh38 |
| NC_000016.9:g.2161611G>A , CM000678.1:g.2161611G>A | GRCh37 |
| NC_000016.8:g.2101612G>A | NCBI36 |
| NG_008617.1:g.29289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3557C>T MANE Select | ENSP00000262304.4:p.Thr1186Ile | |
| ENST00000262304.8:c.3557C>T | ENSP00000262304.4:p.Thr1186Ile | |
| ENST00000415938.7:n.310+730C>T | ||
| ENST00000423118.5:c.3557C>T | ENSP00000399501.1:p.Thr1186Ile | |
| ENST00000468674.5:n.430+730C>T | ||
| ENST00000469241.2:n.507C>T | ||
| ENST00000483024.1:c.233+206C>T | ||
| ENST00000483731.5:n.790+730C>T | ||
| ENST00000488185.2:c.473-3252C>T | ||
| ENST00000565639.6:n.773+730C>T | ||
| ENST00000568591.5:c.2226+730C>T | ENSP00000457162.1:n.2226+730C>T | |
| ENST00000569983.5:n.421+730C>T | ||
| NM_000296.3:c.3557C>T | NP_000287.3:p.Thr1186Ile | |
| NM_001009944.2:c.3557C>T | NP_001009944.2:p.Thr1186Ile | |
| XM_005255370.2:c.512C>T | XP_005255427.1:p.Thr171Ile | |
| XM_011522525.1:c.3635C>T | XP_011520827.1:p.Thr1212Ile | |
| XM_011522526.1:c.3635C>T | XP_011520828.1:p.Thr1212Ile | |
| XM_011522527.1:c.3635C>T | XP_011520829.1:p.Thr1212Ile | |
| XM_011522528.1:c.3611C>T | XP_011520830.1:p.Thr1204Ile | |
| XM_011522529.1:c.3611C>T | XP_011520831.1:p.Thr1204Ile | |
| XM_011522530.1:c.3581C>T | XP_011520832.1:p.Thr1194Ile | |
| XM_011522531.1:c.3563C>T | XP_011520833.1:p.Thr1188Ile | |
| XM_011522532.1:c.3509C>T | XP_011520834.1:p.Thr1170Ile | |
| XM_011522533.1:c.3428C>T | XP_011520835.1:p.Thr1143Ile | |
| XM_011522534.1:c.3371C>T | XP_011520836.1:p.Thr1124Ile | |
| XM_011522535.1:c.1457C>T | XP_011520837.1:p.Thr486Ile | |
| XM_011522536.1:c.3635C>T | XP_011520838.1:p.Thr1212Ile | |
| XM_011522537.1:c.635C>T | XP_011520839.1:p.Thr212Ile | |
| XR_932867.1:n.3650C>T | ||
| XR_932868.1:n.3650C>T | ||
| XR_932869.1:n.3650C>T | ||
| XR_932870.1:n.3650C>T | ||
| XM_005255370.3:c.512C>T | XP_005255427.1:p.Thr171Ile | |
| XM_011522528.3:c.3611C>T | XP_011520830.1:p.Thr1204Ile | |
| XM_011522529.2:c.3611C>T | XP_011520831.1:p.Thr1204Ile | |
| XM_011522537.2:c.635C>T | XP_011520839.1:p.Thr212Ile | |
| XM_024450298.1:c.3677C>T | XP_024306066.1:p.Thr1226Ile | |
| XM_024450299.1:c.3605C>T | XP_024306067.1:p.Thr1202Ile | |
| XM_024450300.1:c.3467C>T | XP_024306068.1:p.Thr1156Ile | |
| XM_024450301.1:c.1553C>T | XP_024306069.1:p.Thr518Ile | |
| NM_000296.4:c.3557C>T | NP_000287.4:p.Thr1186Ile | |
| NM_001009944.3:c.3557C>T MANE Select | NP_001009944.3:p.Thr1186Ile |