Linked Data
dbSNP Id:
rs761126662
ExAC:
5:74021452 G / C
gnomAD v2:
5-74021452-G-C
gnomAD v4:
5-74725627-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74725627G>C , CM000667.2:g.74725627G>C | GRCh38 |
| NC_000005.9:g.74021452G>C , CM000667.1:g.74021452G>C | GRCh37 |
| NC_000005.8:g.74057208G>C | NCBI36 |
| NG_011531.1:g.46591C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296805.8:c.2028+13C>G MANE Select | ENSP00000296805.3:n.2028+13C>G | |
| ENST00000296805.7:c.2028+13C>G | ENSP00000296805.3:n.2028+13C>G | |
| ENST00000345239.6:c.1887+13C>G | ENSP00000296804.3:n.1887+13C>G | |
| ENST00000509430.5:c.2028+13C>G | ENSP00000427004.1:n.2028+13C>G | |
| ENST00000515125.5:n.431+314C>G | ||
| NM_001281302.1:c.2124+13C>G | NP_001268231.1:n.2124+13C>G | |
| NM_032380.4:c.2028+13C>G | NP_115756.2:n.2028+13C>G | |
| NM_170691.2:c.1887+13C>G | NP_733792.1:n.1887+13C>G | |
| NR_104006.1:n.2347+13C>G | ||
| XM_006714721.2:c.1893+13C>G | XP_006714784.1:n.1893+13C>G | |
| XM_011543690.1:c.2028+13C>G | XP_011541992.1:n.2028+13C>G | |
| XM_017009986.1:c.2028+13C>G | XP_016865475.1:n.2028+13C>G | |
| XR_002956185.1:n.3314+13C>G | ||
| NM_032380.5:c.2028+13C>G MANE Select | NP_115756.2:n.2028+13C>G | |
| NM_001281302.2:c.2124+13C>G | NP_001268231.1:n.2124+13C>G | |
| NM_170691.3:c.1887+13C>G | NP_733792.1:n.1887+13C>G | |
| NR_104006.2:n.2093+13C>G |