Linked Data
dbSNP Id:
rs1401595489
gnomAD v2:
9-6594976-T-C
gnomAD v3:
9-6594976-T-C
gnomAD v4:
9-6594976-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6594976T>C , CM000671.2:g.6594976T>C | GRCh38 |
| NC_000009.11:g.6594976T>C , CM000671.1:g.6594976T>C | GRCh37 |
| NC_000009.10:g.6584976T>C | NCBI36 |
| NG_016397.1:g.55717A>G , LRG_643:g.55717A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1261+38A>G MANE Select | ENSP00000370737.4:n.1261+38A>G | |
| ENST00000639364.1:n.961+38A>G | ||
| ENST00000639443.1:n.829+38A>G | ||
| ENST00000639493.1:n.413+38A>G | ||
| ENST00000639954.1:n.969+38A>G | ||
| ENST00000640592.1:n.1144+38A>G | ||
| ENST00000321612.6:c.1261+38A>G | ENSP00000370737.3:n.1261+38A>G | |
| ENST00000463305.1:n.345+38A>G | ||
| NM_000170.2:c.1261+38A>G , LRG_643t1:c.1261+38A>G | NP_000161.2:n.1261+38A>G | |
| NM_000170.3:c.1261+38A>G MANE Select | NP_000161.2:n.1261+38A>G |