Linked Data
dbSNP Id:
rs1190912871
gnomAD v2:
19-7598363-G-C
gnomAD v3:
19-7533477-G-C
gnomAD v4:
19-7533477-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533477G>C , CM000681.2:g.7533477G>C | GRCh38 |
| NC_000019.9:g.7598363G>C , CM000681.1:g.7598363G>C | GRCh37 |
| NC_000019.8:g.7504363G>C | NCBI36 |
| NG_013374.1:g.4326G>C | |
| NG_015806.1:g.15868G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1576-46G>C MANE Select | ENSP00000264079.5:n.1576-46G>C | |
| ENST00000264079.10:c.1576-46G>C | ENSP00000264079.5:n.1576-46G>C | |
| ENST00000394321.9:n.1891-46G>C | ||
| ENST00000599334.1:c.304-46G>C | ||
| ENST00000602227.1:n.84G>C | ||
| NM_020533.2:c.1576-46G>C | NP_065394.1:n.1576-46G>C | |
| NM_020533.3:c.1576-46G>C MANE Select | NP_065394.1:n.1576-46G>C |