Linked Data
dbSNP Id:
rs761513829
ExAC:
5:74021438 G / A
gnomAD v2:
5-74021438-G-A
gnomAD v3:
5-74725613-G-A
gnomAD v4:
5-74725613-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74725613G>A , CM000667.2:g.74725613G>A | GRCh38 |
| NC_000005.9:g.74021438G>A , CM000667.1:g.74021438G>A | GRCh37 |
| NC_000005.8:g.74057194G>A | NCBI36 |
| NG_011531.1:g.46605C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296805.8:c.2028+27C>T MANE Select | ENSP00000296805.3:n.2028+27C>T | |
| ENST00000296805.7:c.2028+27C>T | ENSP00000296805.3:n.2028+27C>T | |
| ENST00000345239.6:c.1887+27C>T | ENSP00000296804.3:n.1887+27C>T | |
| ENST00000509430.5:c.2028+27C>T | ENSP00000427004.1:n.2028+27C>T | |
| ENST00000515125.5:n.431+328C>T | ||
| NM_001281302.1:c.2124+27C>T | NP_001268231.1:n.2124+27C>T | |
| NM_032380.4:c.2028+27C>T | NP_115756.2:n.2028+27C>T | |
| NM_170691.2:c.1887+27C>T | NP_733792.1:n.1887+27C>T | |
| NR_104006.1:n.2347+27C>T | ||
| XM_006714721.2:c.1893+27C>T | XP_006714784.1:n.1893+27C>T | |
| XM_011543690.1:c.2028+27C>T | XP_011541992.1:n.2028+27C>T | |
| XM_017009986.1:c.2028+27C>T | XP_016865475.1:n.2028+27C>T | |
| XR_002956185.1:n.3314+27C>T | ||
| NM_032380.5:c.2028+27C>T MANE Select | NP_115756.2:n.2028+27C>T | |
| NM_001281302.2:c.2124+27C>T | NP_001268231.1:n.2124+27C>T | |
| NM_170691.3:c.1887+27C>T | NP_733792.1:n.1887+27C>T | |
| NR_104006.2:n.2093+27C>T |