Linked Data
dbSNP Id:
rs971979129
gnomAD v2:
8-4285395-G-C
gnomAD v3:
8-4427873-G-C
gnomAD v4:
8-4427873-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.4427873G>C , CM000670.2:g.4427873G>C | GRCh38 |
| NC_000008.10:g.4285395G>C , CM000670.1:g.4285395G>C | GRCh37 |
| NC_000008.9:g.4272803G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635120.2:c.303-7808C>G MANE Select | ENSP00000489225.1:n.303-7808C>G | |
| ENST00000400186.7:c.303-7808C>G | ENSP00000383047.3:n.303-7808C>G | |
| ENST00000520002.5:c.303-7808C>G | ENSP00000430733.1:n.303-7808C>G | |
| ENST00000602557.5:c.303-7808C>G | ENSP00000473359.1:n.303-7808C>G | |
| ENST00000602723.5:c.303-7808C>G | ENSP00000473617.1:n.303-7808C>G | |
| ENST00000635120.1:c.303-7808C>G | ENSP00000489225.1:n.303-7808C>G | |
| NM_033225.5:c.303-7808C>G | NP_150094.5:n.303-7808C>G | |
| XM_011534752.1:c.303-7808C>G | XP_011533054.1:n.303-7808C>G | |
| XM_011534752.2:c.303-7808C>G | XP_011533054.1:n.303-7808C>G | |
| XM_017013731.1:c.303-7808C>G | XP_016869220.1:n.303-7808C>G | |
| NM_033225.6:c.303-7808C>G MANE Select | NP_150094.5:n.303-7808C>G |