Linked Data
dbSNP Id:
rs1428578963
gnomAD v2:
10-96827014-A-G
gnomAD v3:
10-95067257-A-G
gnomAD v4:
10-95067257-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95067257A>G , CM000672.2:g.95067257A>G | GRCh38 |
| NC_000010.10:g.96827014A>G , CM000672.1:g.96827014A>G | GRCh37 |
| NC_000010.9:g.96817004A>G | NCBI36 |
| NG_007972.1:g.7241T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.432T>C MANE Select | ENSP00000360317.3:p.Arg144= | |
| ENST00000371270.5:c.432T>C | ENSP00000360317.3:p.Arg144= | |
| ENST00000479946.2:n.736T>C | ||
| ENST00000490994.6:c.*218T>C | ENSP00000433314.1:n.*218T>C | |
| ENST00000525991.5:c.*7T>C | ENSP00000433842.1:n.*7T>C | |
| ENST00000526814.5:n.687T>C | ||
| ENST00000527420.5:c.432T>C | ENSP00000433191.1:p.Arg144= | |
| ENST00000527953.5:n.687T>C | ||
| ENST00000533320.5:n.666T>C | ||
| ENST00000535898.5:c.126T>C | ENSP00000445062.1:p.Arg42= | |
| ENST00000539050.5:c.222T>C | ENSP00000442343.2:p.Arg74= | |
| ENST00000623108.3:c.222T>C | ENSP00000485110.1:p.Arg74= | |
| ENST00000628935.1:c.174T>C | ENSP00000487145.1:p.Arg58= | |
| NM_000770.3:c.432T>C MANE Select | NP_000761.3:p.Arg144= | |
| NM_001198853.1:c.222T>C | NP_001185782.1:p.Arg74= | |
| NM_001198854.1:c.126T>C | NP_001185783.1:p.Arg42= | |
| NM_001198855.1:c.222T>C | NP_001185784.1:p.Arg74= | |
| XR_945610.1:n.528T>C |