Linked Data
dbSNP Id:
rs1478373251
gnomAD v2:
1-160011024-T-A
gnomAD v3:
1-160041234-T-A
gnomAD v4:
1-160041234-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160041234T>A , CM000663.2:g.160041234T>A | GRCh38 |
| NC_000001.10:g.160011024T>A , CM000663.1:g.160011024T>A | GRCh37 |
| NC_000001.9:g.158277648T>A | NCBI36 |
| NG_016411.1:g.33938A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.671+600A>T | ||
| ENST00000636689.1:n.95-1886A>T | ||
| ENST00000637644.1:c.487+812A>T | ENSP00000490282.1:n.487+812A>T | |
| ENST00000638728.1:c.*159A>T | ENSP00000492619.1:n.*159A>T | |
| ENST00000638840.1:c.919+102A>T | ||
| ENST00000638868.1:c.*159A>T | ENSP00000491250.1:n.*159A>T | |
| ENST00000639408.1:c.488-633A>T | ENSP00000491635.1:n.488-633A>T | |
| ENST00000640017.1:c.669+600A>T | ENSP00000491337.1:n.669+600A>T | |
| ENST00000640914.1:c.124+600A>T | ||
| ENST00000644903.1:c.*159A>T MANE Select | ENSP00000495557.1:n.*159A>T | |
| ENST00000368089.3:c.*159A>T | ENSP00000357068.3:n.*159A>T | |
| ENST00000509700.1:n.462+600A>T | ||
| NM_002241.4:c.*159A>T | NP_002232.2:n.*159A>T | |
| NM_002241.5:c.*159A>T MANE Select | NP_002232.2:n.*159A>T |