Linked Data
dbSNP Id:
rs755051538
ExAC:
6:39016715 C / G
gnomAD v2:
6-39016715-C-G
gnomAD v3:
6-39048939-C-G
gnomAD v4:
6-39048939-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39048939C>G , CM000668.2:g.39048939C>G | GRCh38 |
| NC_000006.11:g.39016715C>G , CM000668.1:g.39016715C>G | GRCh37 |
| NC_000006.10:g.39124693C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373256.5:c.78+21C>G MANE Select | ENSP00000362353.4:n.78+21C>G | |
| ENST00000373256.4:c.78+21C>G | ENSP00000362353.4:n.78+21C>G | |
| NM_002062.3:c.78+21C>G | NP_002053.3:n.78+21C>G | |
| XR_926153.1:n.138+21C>G | ||
| XR_926154.1:n.138+21C>G | ||
| XR_926155.1:n.138+21C>G | ||
| NM_002062.4:c.78+21C>G | NP_002053.3:n.78+21C>G | |
| NR_136562.1:n.138+21C>G | ||
| NR_136563.1:n.138+21C>G | ||
| NM_002062.5:c.78+21C>G MANE Select | NP_002053.3:n.78+21C>G | |
| NR_136562.2:n.138+21C>G | ||
| NR_136563.2:n.138+21C>G |