Linked Data
dbSNP Id:
rs1167083051
gnomAD v2:
10-64278740-A-G
gnomAD v3:
10-62518981-A-G
gnomAD v4:
10-62518981-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62518981A>G , CM000672.2:g.62518981A>G | GRCh38 |
| NC_000010.10:g.64278740A>G , CM000672.1:g.64278740A>G | GRCh37 |
| NC_000010.9:g.63948746A>G | NCBI36 |
| NG_021209.1:g.149825A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647733.1:c.981+59184A>G | ENSP00000502188.1:n.981+59184A>G | |
| ENST00000410046.7:c.981+59184A>G | ENSP00000387091.3:n.981+59184A>G | |
| NM_199451.2:c.981+59184A>G | NP_955523.1:n.981+59184A>G | |
| XM_017015937.2:c.982-25228A>G | XP_016871426.1:n.982-25228A>G | |
| NM_199451.3:c.981+59184A>G | NP_955523.1:n.981+59184A>G |