Linked Data
ClinVar Variation Id:
448522
ClinVar RCV Id:
RCV000516463
dbSNP Id:
rs1311464400
gnomAD v2:
11-66455000-G-A
gnomAD v4:
11-66687529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66687529G>A , CM000673.2:g.66687529G>A | GRCh38 |
| NC_000011.9:g.66455000G>A , CM000673.1:g.66455000G>A | GRCh37 |
| NC_000011.8:g.66211576G>A | NCBI36 |
| NG_016150.1:g.38871C>T | |
| NG_016150.2:g.46833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309996.7:c.6620C>T | ENSP00000311489.2:p.Thr2207Ile | |
| ENST00000611817.5:c.6620C>T | ENSP00000480692.2:p.Thr2207Ile | |
| ENST00000617502.5:c.6641C>T | ENSP00000482000.2:p.Thr2214Ile | |
| ENST00000647510.2:c.6620C>T | ENSP00000508362.1:p.Thr2207Ile | |
| ENST00000533211.6:c.6620C>T MANE Select | ENSP00000432568.1:p.Thr2207Ile | |
| ENST00000647510.1:n.7147C>T | ||
| ENST00000309996.6:c.6620C>T | ENSP00000311489.2:p.Thr2207Ile | |
| ENST00000529997.5:c.6620C>T | ENSP00000433593.1:p.Thr2207Ile | |
| ENST00000533211.5:c.6620C>T | ENSP00000432568.1:p.Thr2207Ile | |
| ENST00000611817.4:c.2252C>T | ENSP00000480692.1:p.Thr751Ile | |
| ENST00000617502.4:c.2252C>T | ENSP00000482000.1:p.Thr751Ile | |
| NM_006946.2:c.6620C>T | NP_008877.1:p.Thr2207Ile | |
| XM_005274192.3:c.6620C>T | XP_005274249.1:p.Thr2207Ile | |
| XM_005274193.3:c.6620C>T | XP_005274250.1:p.Thr2207Ile | |
| XM_006718669.2:c.6641C>T | XP_006718732.1:p.Thr2214Ile | |
| XM_006718671.2:c.6620C>T | XP_006718734.1:p.Thr2207Ile | |
| NM_006946.3:c.6620C>T | NP_008877.1:p.Thr2207Ile | |
| XM_005274192.4:c.6620C>T | XP_005274249.1:p.Thr2207Ile | |
| XM_006718669.3:c.6641C>T | XP_006718732.1:p.Thr2214Ile | |
| XM_006718671.4:c.6620C>T | XP_006718734.1:p.Thr2207Ile | |
| XM_017018174.1:c.6620C>T | XP_016873663.1:p.Thr2207Ile | |
| XM_017018175.2:c.6620C>T | XP_016873664.1:p.Thr2207Ile | |
| XM_017018176.1:c.6620C>T | XP_016873665.1:p.Thr2207Ile | |
| XM_017018177.2:c.6620C>T | XP_016873666.1:p.Thr2207Ile | |
| XM_017018178.1:c.6620C>T | XP_016873667.1:p.Thr2207Ile | |
| NM_006946.4:c.6620C>T MANE Select | NP_008877.2:p.Thr2207Ile |