Linked Data
dbSNP Id:
rs151077825
gnomAD v2:
11-112064626-A-C
gnomAD v3:
11-112193903-A-C
gnomAD v4:
11-112193903-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112193903A>C , CM000673.2:g.112193903A>C | GRCh38 |
| NC_000011.9:g.112064626A>C , CM000673.1:g.112064626A>C | GRCh37 |
| NC_000011.8:g.111569836A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357685.11:c.542A>C MANE Select | ENSP00000350314.5:p.Asn181Thr | |
| ENST00000357685.9:c.542A>C | ENSP00000350314.5:p.Asn181Thr | |
| ENST00000361053.8:c.517+206A>C | ENSP00000354338.4:n.517+206A>C | |
| ENST00000438022.5:c.440A>C | ENSP00000414843.1:p.Asn147Thr | |
| ENST00000460924.6:n.815A>C | ||
| ENST00000494860.5:n.575A>C | ||
| ENST00000526088.5:c.440A>C | ENSP00000436615.1:p.Asn147Thr | |
| ENST00000527939.1:c.*184A>C | ENSP00000436956.1:n.*184A>C | |
| ENST00000530677.1:c.237A>C | ||
| ENST00000531169.5:c.440A>C | ENSP00000437053.1:p.Asn147Thr | |
| ENST00000532593.5:c.227A>C | ENSP00000431802.1:p.Asn76Thr | |
| ENST00000532612.5:c.447+206A>C | ||
| ENST00000534550.5:c.*159+206A>C | ENSP00000434488.1:n.*159+206A>C | |
| NM_001037290.2:c.440A>C | NP_001032367.2:p.Asn147Thr | |
| NM_001256397.1:c.440A>C | NP_001243326.1:p.Asn147Thr | |
| NM_001256398.1:c.517+206A>C | NP_001243327.1:n.517+206A>C | |
| NM_001256400.1:c.227A>C | NP_001243329.1:p.Asn76Thr | |
| NM_031938.5:c.542A>C | NP_114144.4:p.Asn181Thr | |
| NM_001037290.3:c.440A>C | NP_001032367.3:p.Asn147Thr | |
| NM_001256397.2:c.440A>C | NP_001243326.2:p.Asn147Thr | |
| NM_001256398.2:c.517+206A>C | NP_001243327.2:n.517+206A>C | |
| NM_001256400.2:c.227A>C | NP_001243329.2:p.Asn76Thr | |
| NM_031938.7:c.542A>C MANE Select | NP_114144.5:p.Asn181Thr | |
| NM_001037290.4:c.440A>C | NP_001032367.3:p.Asn147Thr | |
| NM_001256397.3:c.440A>C | NP_001243326.2:p.Asn147Thr | |
| NM_001256398.3:c.517+206A>C | NP_001243327.2:n.517+206A>C | |
| NM_001256400.3:c.227A>C | NP_001243329.2:p.Asn76Thr |