Linked Data
dbSNP Id:
rs1594468
gnomAD v2:
4-141387438-C-T
gnomAD v3:
4-140466284-C-T
gnomAD v4:
4-140466284-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.140466284C>T , CM000666.2:g.140466284C>T | GRCh38 |
| NC_000004.11:g.141387438C>T , CM000666.1:g.141387438C>T | GRCh37 |
| NC_000004.10:g.141606888C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000511113.6:c.573-1275G>A MANE Select | ENSP00000421185.1:n.573-1275G>A | |
| ENST00000503109.6:c.573-1275G>A | ENSP00000426225.2:n.573-1275G>A | |
| ENST00000509091.1:n.456-1275G>A | ||
| ENST00000511113.5:c.573-1275G>A | ENSP00000421185.1:n.573-1275G>A | |
| ENST00000511632.5:n.172-1275G>A | ||
| ENST00000513106.5:n.252-1275G>A | ||
| ENST00000515121.5:c.95-1275G>A | ENSP00000425945.1:n.95-1275G>A | |
| ENST00000515354.5:c.254-9565G>A | ENSP00000423767.1:n.254-9565G>A | |
| ENST00000515402.1:c.276-1275G>A | ENSP00000423768.1:n.276-1275G>A | |
| NM_001277353.1:c.573-1275G>A | NP_001264282.1:n.573-1275G>A | |
| XM_011531650.1:c.573-1275G>A | XP_011529952.1:n.573-1275G>A | |
| XM_011531651.1:c.525-1275G>A | XP_011529953.1:n.525-1275G>A | |
| XM_011531652.1:c.525-1275G>A | XP_011529954.1:n.525-1275G>A | |
| XM_011531653.1:c.525-1275G>A | XP_011529955.1:n.525-1275G>A | |
| XM_011531654.1:c.573-1275G>A | XP_011529956.1:n.573-1275G>A | |
| XM_011531655.1:c.573-1275G>A | XP_011529957.1:n.573-1275G>A | |
| XM_011531656.1:c.435-1275G>A | XP_011529958.1:n.435-1275G>A | |
| XM_011531657.1:c.429-1275G>A | XP_011529959.1:n.429-1275G>A | |
| XM_011531658.1:c.276-1275G>A | XP_011529960.1:n.276-1275G>A | |
| XM_011531659.1:c.573-1275G>A | XP_011529961.1:n.573-1275G>A | |
| XM_011531660.1:c.228-1275G>A | XP_011529962.1:n.228-1275G>A | |
| XM_011531661.1:c.573-1275G>A | XP_011529963.1:n.573-1275G>A | |
| XM_011531662.1:c.572+5491G>A | XP_011529964.1:n.572+5491G>A | |
| XM_011531663.1:c.15-1275G>A | XP_011529965.1:n.15-1275G>A | |
| XM_011531664.1:c.15-1275G>A | XP_011529966.1:n.15-1275G>A | |
| XM_011531665.1:c.15-1275G>A | XP_011529967.1:n.15-1275G>A | |
| XR_938697.1:n.2180-1275G>A | ||
| XM_011531650.3:c.573-1275G>A | XP_011529952.1:n.573-1275G>A | |
| XM_011531651.2:c.525-1275G>A | XP_011529953.1:n.525-1275G>A | |
| XM_011531652.2:c.525-1275G>A | XP_011529954.1:n.525-1275G>A | |
| XM_011531653.3:c.525-1275G>A | XP_011529955.1:n.525-1275G>A | |
| XM_011531654.3:c.573-1275G>A | XP_011529956.1:n.573-1275G>A | |
| XM_011531656.3:c.435-1275G>A | XP_011529958.1:n.435-1275G>A | |
| XM_011531657.3:c.429-1275G>A | XP_011529959.1:n.429-1275G>A | |
| XM_011531658.3:c.276-1275G>A | XP_011529960.1:n.276-1275G>A | |
| XM_011531659.2:c.573-1275G>A | XP_011529961.1:n.573-1275G>A | |
| XM_011531661.2:c.573-1275G>A | XP_011529963.1:n.573-1275G>A | |
| XM_011531662.2:c.572+5491G>A | XP_011529964.1:n.572+5491G>A | |
| XM_011531663.3:c.15-1275G>A | XP_011529965.1:n.15-1275G>A | |
| XM_011531664.2:c.15-1275G>A | XP_011529966.1:n.15-1275G>A | |
| XM_011531665.3:c.15-1275G>A | XP_011529967.1:n.15-1275G>A | |
| XR_938697.2:n.1397-1275G>A | ||
| NM_001277353.2:c.573-1275G>A MANE Select | NP_001264282.1:n.573-1275G>A |