Linked Data
dbSNP Id:
rs563151793
gnomAD v2:
10-63718260-G-C
gnomAD v3:
10-61958501-G-C
gnomAD v4:
10-61958501-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61958501G>C , CM000672.2:g.61958501G>C | GRCh38 |
| NC_000010.10:g.63718260G>C , CM000672.1:g.63718260G>C | GRCh37 |
| NC_000010.9:g.63388266G>C | NCBI36 |
| NG_030027.1:g.62248G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279873.12:c.502+18093G>C MANE Select | ENSP00000279873.7:n.502+18093G>C | |
| ENST00000644638.1:c.502+18093G>C | ENSP00000494412.1:n.502+18093G>C | |
| ENST00000681100.1:c.502+18093G>C | ENSP00000506119.1:n.502+18093G>C | |
| ENST00000279873.11:c.502+18093G>C | ENSP00000279873.7:n.502+18093G>C | |
| NM_032199.2:c.502+18093G>C | NP_115575.1:n.502+18093G>C | |
| XM_011540262.1:c.502+18093G>C | XP_011538564.1:n.502+18093G>C | |
| XM_024448230.1:c.-66+18093G>C | XP_024303998.1:n.-66+18093G>C | |
| NM_032199.3:c.502+18093G>C MANE Select | NP_115575.1:n.502+18093G>C |