Linked Data
dbSNP Id:
rs1014624198
gnomAD v2:
X-25030956-G-C
gnomAD v3:
X-25012839-G-C
gnomAD v4:
X-25012839-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25012839G>C , CM000685.2:g.25012839G>C | GRCh38 |
| NC_000023.10:g.25030956G>C , CM000685.1:g.25030956G>C | GRCh37 |
| NC_000023.9:g.24940877G>C | NCBI36 |
| NG_008281.1:g.8110C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1073+83C>G MANE Select | ENSP00000368332.4:n.1073+83C>G | |
| ENST00000379044.4:c.1073+83C>G | ENSP00000368332.4:n.1073+83C>G | |
| NM_139058.2:c.1073+83C>G | NP_620689.1:n.1073+83C>G | |
| NM_139058.3:c.1073+83C>G MANE Select | NP_620689.1:n.1073+83C>G |