Linked Data
dbSNP Id:
rs761976569
ExAC:
3:52437345 G / C
gnomAD v2:
3-52437345-G-C
gnomAD v4:
3-52403329-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403329G>C , CM000665.2:g.52403329G>C | GRCh38 |
| NC_000003.11:g.52437345G>C , CM000665.1:g.52437345G>C | GRCh37 |
| NC_000003.10:g.52412385G>C | NCBI36 |
| NG_031859.1:g.11665C>G , LRG_529:g.11665C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1730-31C>G MANE Select | ENSP00000417132.1:n.1730-31C>G | |
| ENST00000296288.9:c.1676-31C>G | ENSP00000296288.5:n.1676-31C>G | |
| ENST00000460680.5:c.1730-31C>G | ENSP00000417132.1:n.1730-31C>G | |
| ENST00000466093.1:n.137-31C>G | ||
| ENST00000469613.5:c.119+472C>G | ||
| ENST00000478368.1:c.233-31C>G | ENSP00000420647.1:n.233-31C>G | |
| NM_004656.3:c.1730-31C>G | NP_004647.1:n.1730-31C>G | |
| XM_011534149.1:c.1730-31C>G | XP_011532451.1:n.1730-31C>G | |
| XM_011534150.1:c.1730-31C>G | XP_011532452.1:n.1730-31C>G | |
| XM_011534151.1:c.1676-31C>G | XP_011532453.1:n.1676-31C>G | |
| XM_011534152.1:c.1730-31C>G | XP_011532454.1:n.1730-31C>G | |
| XM_011534149.3:c.1730-31C>G | XP_011532451.1:n.1730-31C>G | |
| XM_011534150.3:c.1730-31C>G | XP_011532452.1:n.1730-31C>G | |
| XM_011534151.3:c.1676-31C>G | XP_011532453.1:n.1676-31C>G | |
| XM_011534152.2:c.1730-31C>G | XP_011532454.1:n.1730-31C>G | |
| XM_017007303.2:c.1676-31C>G | XP_016862792.1:n.1676-31C>G | |
| NM_004656.4:c.1730-31C>G MANE Select | NP_004647.1:n.1730-31C>G |