Linked Data
dbSNP Id:
rs1335621629
gnomAD v2:
1-17444787-T-A
gnomAD v3:
1-17118292-T-A
gnomAD v4:
1-17118292-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17118292T>A , CM000663.2:g.17118292T>A | GRCh38 |
| NC_000001.10:g.17444787T>A , CM000663.1:g.17444787T>A | GRCh37 |
| NC_000001.9:g.17317374T>A | NCBI36 |
| NG_033958.1:g.6162A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375486.9:c.92+988A>T MANE Select | ENSP00000364635.4:n.92+988A>T | |
| ENST00000375481.1:c.92+988A>T | ENSP00000364630.1:n.92+988A>T | |
| ENST00000375486.8:c.92+988A>T | ENSP00000364635.4:n.92+988A>T | |
| NM_007365.2:c.92+988A>T | NP_031391.2:n.92+988A>T | |
| XM_011540549.1:c.92+988A>T | XP_011538851.1:n.92+988A>T | |
| XR_947004.1:n.4868T>A | ||
| XR_001736944.1:n.174+988A>T | ||
| NM_007365.3:c.92+988A>T MANE Select | NP_031391.2:n.92+988A>T |