Linked Data
ClinVar Variation Id:
262945
dbSNP Id:
rs137862641
ExAC:
16:84209558 T / C
gnomAD v2:
16-84209558-T-C
gnomAD v3:
16-84175952-T-C
gnomAD v4:
16-84175952-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84175952T>C , CM000678.2:g.84175952T>C | GRCh38 |
| NC_000016.9:g.84209558T>C , CM000678.1:g.84209558T>C | GRCh37 |
| NC_000016.8:g.82767059T>C | NCBI36 |
| NG_021174.1:g.35694T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378553.10:c.1718T>C MANE Select | ENSP00000367815.5:p.Ile573Thr | |
| ENST00000378553.9:c.1718T>C | ENSP00000367815.5:p.Ile573Thr | |
| ENST00000562024.1:n.190T>C | ||
| ENST00000563818.5:n.1395T>C | ||
| ENST00000569735.1:c.20T>C | ENSP00000454960.1:p.Ile7Thr | |
| ENST00000570298.5:n.4171T>C | ||
| ENST00000623406.1:n.725T>C | ||
| NM_178452.4:c.1718T>C | NP_848547.4:p.Ile573Thr | |
| XM_006721129.1:c.1724T>C | XP_006721192.1:p.Ile575Thr | |
| XM_011522850.1:c.2000T>C | XP_011521152.1:p.Ile667Thr | |
| XM_011522851.1:c.1994T>C | XP_011521153.1:p.Ile665Thr | |
| XM_011522852.1:c.1952T>C | XP_011521154.1:p.Ile651Thr | |
| XM_011522853.1:c.1766T>C | XP_011521155.1:p.Ile589Thr | |
| XM_011522854.1:c.1772T>C | XP_011521156.1:p.Ile591Thr | |
| XM_011522855.1:c.1766T>C | XP_011521157.1:p.Ile589Thr | |
| XM_011522856.1:c.1739T>C | XP_011521158.1:p.Ile580Thr | |
| XM_011522859.1:c.1244T>C | XP_011521161.1:p.Ile415Thr | |
| XM_011522860.1:c.1010T>C | XP_011521162.1:p.Ile337Thr | |
| NM_001318756.1:c.1010T>C | NP_001305685.1:p.Ile337Thr | |
| NM_178452.5:c.1718T>C | NP_848547.4:p.Ile573Thr | |
| XM_006721129.3:c.1724T>C | XP_006721192.1:p.Ile575Thr | |
| XM_011522853.3:c.1766T>C | XP_011521155.1:p.Ile589Thr | |
| XM_011522854.3:c.1772T>C | XP_011521156.1:p.Ile591Thr | |
| XM_011522855.3:c.1766T>C | XP_011521157.1:p.Ile589Thr | |
| XM_017022918.2:c.1718T>C | XP_016878407.1:p.Ile573Thr | |
| XM_017022919.1:c.1505T>C | XP_016878408.1:p.Ile502Thr | |
| XM_017022920.2:c.1010T>C | XP_016878409.1:p.Ile337Thr | |
| XM_017022921.2:c.962T>C | XP_016878410.1:p.Ile321Thr | |
| XM_017022922.2:c.962T>C | XP_016878411.1:p.Ile321Thr | |
| XR_001751829.2:n.2429T>C | ||
| XR_001751830.2:n.2423T>C | ||
| XR_001751831.2:n.2375T>C | ||
| XR_001751832.1:n.4977T>C | ||
| NM_178452.6:c.1718T>C MANE Select | NP_848547.4:p.Ile573Thr |