Linked Data
dbSNP Id:
rs1176357711
gnomAD v2:
5-74021396-C-A
gnomAD v3:
5-74725571-C-A
gnomAD v4:
5-74725571-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74725571C>A , CM000667.2:g.74725571C>A | GRCh38 |
| NC_000005.9:g.74021396C>A , CM000667.1:g.74021396C>A | GRCh37 |
| NC_000005.8:g.74057152C>A | NCBI36 |
| NG_011531.1:g.46647G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296805.8:c.2028+69G>T MANE Select | ENSP00000296805.3:n.2028+69G>T | |
| ENST00000296805.7:c.2028+69G>T | ENSP00000296805.3:n.2028+69G>T | |
| ENST00000345239.6:c.1887+69G>T | ENSP00000296804.3:n.1887+69G>T | |
| ENST00000509430.5:c.2028+69G>T | ENSP00000427004.1:n.2028+69G>T | |
| ENST00000515125.5:n.431+370G>T | ||
| NM_001281302.1:c.2124+69G>T | NP_001268231.1:n.2124+69G>T | |
| NM_032380.4:c.2028+69G>T | NP_115756.2:n.2028+69G>T | |
| NM_170691.2:c.1887+69G>T | NP_733792.1:n.1887+69G>T | |
| NR_104006.1:n.2347+69G>T | ||
| XM_006714721.2:c.1893+69G>T | XP_006714784.1:n.1893+69G>T | |
| XM_011543690.1:c.2028+69G>T | XP_011541992.1:n.2028+69G>T | |
| XM_017009986.1:c.2028+69G>T | XP_016865475.1:n.2028+69G>T | |
| XR_002956185.1:n.3314+69G>T | ||
| NM_032380.5:c.2028+69G>T MANE Select | NP_115756.2:n.2028+69G>T | |
| NM_001281302.2:c.2124+69G>T | NP_001268231.1:n.2124+69G>T | |
| NM_170691.3:c.1887+69G>T | NP_733792.1:n.1887+69G>T | |
| NR_104006.2:n.2093+69G>T |