Linked Data
ClinVar Variation Id:
265071
dbSNP Id:
rs774110184
ExAC:
13:111358439 A / G
gnomAD v2:
13-111358439-A-G
gnomAD v4:
13-110706092-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110706092A>G , CM000675.2:g.110706092A>G | GRCh38 |
| NC_000013.10:g.111358439A>G , CM000675.1:g.111358439A>G | GRCh37 |
| NC_000013.9:g.110156440A>G | NCBI36 |
| NG_042045.1:g.5089T>C | |
| NG_042045.2:g.12510T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257347.9:c.2T>C MANE Select | ENSP00000257347.4:p.Met1Thr | |
| ENST00000257347.8:c.2T>C | ENSP00000257347.4:p.Met1Thr | |
| ENST00000465145.5:n.99+279T>C | ||
| ENST00000485188.1:n.706-521T>C | ||
| ENST00000535398.5:n.468-4537T>C | ||
| ENST00000537394.5:c.2T>C | ENSP00000437962.1:p.Met1Thr | |
| ENST00000537412.5:n.466-521T>C | ||
| ENST00000540629.5:n.256-521T>C | ||
| ENST00000541443.5:n.135+279T>C | ||
| ENST00000542126.5:n.221-521T>C | ||
| ENST00000544488.5:n.386+7045T>C | ||
| NM_024537.2:c.2T>C | NP_078813.1:p.Met1Thr | |
| NM_024537.3:c.2T>C | NP_078813.1:p.Met1Thr | |
| XM_006719953.2:c.-115-521T>C | XP_006720016.1:n.-115-521T>C | |
| XM_011521114.1:c.2T>C | XP_011519416.1:p.Met1Thr | |
| XM_011521115.1:c.-115-521T>C | XP_011519417.1:n.-115-521T>C | |
| XM_011521117.1:c.2T>C | XP_011519419.1:p.Met1Thr | |
| XM_011521118.1:c.2T>C | XP_011519420.1:p.Met1Thr | |
| XM_011521119.1:c.2T>C | XP_011519421.1:p.Met1Thr | |
| XM_011521120.1:c.-384-521T>C | XP_011519422.1:n.-384-521T>C | |
| XR_243047.2:n.25T>C | ||
| XR_243048.3:n.25T>C | ||
| XR_243049.3:n.25T>C | ||
| XR_243051.2:n.25T>C | ||
| NM_001352252.1:c.-776+279T>C | NP_001339181.1:n.-776+279T>C | |
| NM_001352253.1:c.2T>C | NP_001339182.1:p.Met1Thr | |
| NR_147941.1:n.145+279T>C | ||
| NR_147942.1:n.89T>C | ||
| XM_006719953.3:c.-115-521T>C | XP_006720016.1:n.-115-521T>C | |
| XM_011521117.3:c.2T>C | XP_011519419.1:p.Met1Thr | |
| XM_011521118.3:c.2T>C | XP_011519420.1:p.Met1Thr | |
| XM_017020741.1:c.-64-4537T>C | XP_016876230.1:n.-64-4537T>C | |
| XM_017020742.2:c.2T>C | XP_016876231.1:p.Met1Thr | |
| XR_001749664.2:n.42T>C | ||
| XR_001749665.2:n.42T>C | ||
| XR_001749666.2:n.42T>C | ||
| XR_001749667.2:n.42T>C | ||
| XR_001749668.2:n.42T>C | ||
| XR_002957472.1:n.42T>C | ||
| XR_243047.3:n.42T>C | ||
| XR_243048.4:n.42T>C | ||
| XR_243049.4:n.42T>C | ||
| XR_243051.3:n.42T>C | ||
| NM_024537.4:c.2T>C MANE Select | NP_078813.1:p.Met1Thr | |
| NM_001352253.2:c.2T>C | NP_001339182.1:p.Met1Thr | |
| NR_147942.2:n.25T>C | ||
| NM_001352252.2:c.-776+279T>C | NP_001339181.1:n.-776+279T>C | |
| NM_001352253.3:c.2T>C | NP_001339182.1:p.Met1Thr |