Linked Data
dbSNP Id:
rs1388706459
gnomAD v2:
8-87683351-A-C
gnomAD v3:
8-86671123-A-C
gnomAD v4:
8-86671123-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671123A>C , CM000670.2:g.86671123A>C | GRCh38 |
| NC_000008.10:g.87683351A>C , CM000670.1:g.87683351A>C | GRCh37 |
| NC_000008.9:g.87752467A>C | NCBI36 |
| NG_016980.1:g.77553T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.339-25T>G MANE Select | ENSP00000316605.5:n.339-25T>G | |
| ENST00000680314.1:n.100-25T>G | ||
| ENST00000681746.1:c.339-25T>G | ENSP00000505959.1:n.339-25T>G | |
| ENST00000320005.5:c.339-25T>G | ENSP00000316605.5:n.339-25T>G | |
| NM_019098.4:c.339-25T>G | NP_061971.3:n.339-25T>G | |
| XM_011517138.1:c.-76-25T>G | XP_011515440.1:n.-76-25T>G | |
| XM_011517138.2:c.-76-25T>G | XP_011515440.1:n.-76-25T>G | |
| NM_019098.5:c.339-25T>G MANE Select | NP_061971.3:n.339-25T>G |