Linked Data
dbSNP Id:
rs1235476472
gnomAD v2:
19-41518380-T-C
gnomAD v3:
19-41012475-T-C
gnomAD v4:
19-41012475-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012475T>C , CM000681.2:g.41012475T>C | GRCh38 |
| NC_000019.9:g.41518380T>C , CM000681.1:g.41518380T>C | GRCh37 |
| NC_000019.8:g.46210220T>C | NCBI36 |
| NG_007929.1:g.26177T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1142T>C MANE Select | ENSP00000324648.2:p.Ile381Thr | |
| ENST00000598834.2:c.1166T>C | ||
| ENST00000324071.8:c.1142T>C | ENSP00000324648.2:p.Ile381Thr | |
| ENST00000593831.1:c.434T>C | ENSP00000470582.1:p.Ile145Thr | |
| ENST00000597612.1:n.637T>C | ||
| NM_000767.4:c.1142T>C | NP_000758.1:p.Ile381Thr | |
| XM_005258569.3:c.1142T>C | XP_005258626.1:p.Ile381Thr | |
| XM_006723050.2:c.1142T>C | XP_006723113.1:p.Ile381Thr | |
| XM_011526546.1:c.1142T>C | XP_011524848.1:p.Ile381Thr | |
| XM_011526547.1:c.1142T>C | XP_011524849.1:p.Ile381Thr | |
| XM_011526548.1:c.662T>C | XP_011524850.1:p.Ile221Thr | |
| XM_011526549.1:c.551T>C | XP_011524851.1:p.Ile184Thr | |
| XM_011526550.1:c.542T>C | XP_011524852.1:p.Ile181Thr | |
| NM_000767.5:c.1142T>C MANE Select | NP_000758.1:p.Ile381Thr |