Linked Data
dbSNP Id:
rs375833448
ExAC:
18:31318786 T / C
gnomAD v2:
18-31318786-T-C
gnomAD v3:
18-33738822-T-C
gnomAD v4:
18-33738822-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.33738822T>C , CM000680.2:g.33738822T>C | GRCh38 |
| NC_000018.9:g.31318786T>C , CM000680.1:g.31318786T>C | GRCh37 |
| NC_000018.8:g.29572784T>C | NCBI36 |
| NG_055244.1:g.165246T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696964.1:c.1421T>C | ENSP00000513003.1:p.Ile474Thr | |
| ENST00000269197.12:c.1418T>C MANE Select | ENSP00000269197.4:p.Ile473Thr | |
| ENST00000592288.6:c.*542T>C | ENSP00000465053.1:n.*542T>C | |
| ENST00000592541.6:c.*1077T>C | ENSP00000466655.2:n.*1077T>C | |
| ENST00000593195.6:c.1630T>C | ENSP00000466073.1:n.1630T>C | |
| ENST00000642541.1:c.1250T>C | ENSP00000493665.1:p.Ile417Thr | |
| ENST00000681521.1:c.1298T>C | ENSP00000506037.1:p.Ile433Thr | |
| ENST00000269197.9:c.1418T>C | ENSP00000269197.4:p.Ile473Thr | |
| ENST00000592288.5:c.*542T>C | ENSP00000465053.1:n.*542T>C | |
| NM_030632.1:c.1418T>C | NP_085135.1:p.Ile473Thr | |
| XM_005258356.1:c.1421T>C | XP_005258413.1:p.Ile474Thr | |
| XM_011526205.1:c.1394T>C | XP_011524507.1:p.Ile465Thr | |
| XM_011526206.1:c.1340T>C | XP_011524508.1:p.Ile447Thr | |
| XM_011526207.1:c.1340T>C | XP_011524509.1:p.Ile447Thr | |
| XM_011526208.1:c.1301T>C | XP_011524510.1:p.Ile434Thr | |
| XM_011526209.1:c.1250T>C | XP_011524511.1:p.Ile417Thr | |
| XM_011526210.1:c.1250T>C | XP_011524512.1:p.Ile417Thr | |
| XM_011526211.1:c.1250T>C | XP_011524513.1:p.Ile417Thr | |
| XM_011526212.1:c.1250T>C | XP_011524514.1:p.Ile417Thr | |
| XM_011526213.1:c.1250T>C | XP_011524515.1:p.Ile417Thr | |
| XM_011526214.1:c.1250T>C | XP_011524516.1:p.Ile417Thr | |
| NM_030632.2:c.1418T>C | NP_085135.1:p.Ile473Thr | |
| XM_011526205.2:c.1394T>C | XP_011524507.1:p.Ile465Thr | |
| XM_011526206.2:c.1340T>C | XP_011524508.1:p.Ile447Thr | |
| XM_011526213.2:c.1250T>C | XP_011524515.1:p.Ile417Thr | |
| XM_017026012.1:c.1340T>C | XP_016881501.1:p.Ile447Thr | |
| XM_017026013.1:c.1250T>C | XP_016881502.1:p.Ile417Thr | |
| XM_017026014.2:c.1250T>C | XP_016881503.1:p.Ile417Thr | |
| XM_024451269.1:c.1250T>C | XP_024307037.1:p.Ile417Thr | |
| NM_030632.3:c.1418T>C MANE Select | NP_085135.1:p.Ile473Thr |