Linked Data
dbSNP Id:
rs12188950
gnomAD v2:
5-59783317-C-T
gnomAD v3:
5-60487490-C-T
gnomAD v4:
5-60487490-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60487490C>T , CM000667.2:g.60487490C>T | GRCh38 |
| NC_000005.9:g.59783317C>T , CM000667.1:g.59783317C>T | GRCh37 |
| NC_000005.8:g.59819074C>T | NCBI36 |
| NG_027957.1:g.5609G>A | |
| NG_027957.2:g.41840G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502484.6:c.-90+452G>A | ENSP00000423094.2:n.-90+452G>A | |
| ENST00000505507.6:c.-213+452G>A | ENSP00000425910.2:n.-213+452G>A | |
| ENST00000506510.6:n.70+34561G>A | ||
| ENST00000509355.5:n.157+452G>A | ||
| ENST00000511382.1:n.124+452G>A | ||
| ENST00000515835.2:c.-213+452G>A | ENSP00000424281.2:n.-213+452G>A | |
| NM_001165899.1:c.-90+452G>A | NP_001159371.1:n.-90+452G>A | |
| XM_011543472.1:c.-90+34561G>A | XP_011541774.1:n.-90+34561G>A | |
| NM_001349241.1:c.-193+452G>A | NP_001336170.1:n.-193+452G>A | |
| NM_001349243.1:c.-674+452G>A | NP_001336172.1:n.-674+452G>A | |
| NM_001364599.1:c.-90+8649G>A | NP_001351528.1:n.-90+8649G>A | |
| XM_017009566.1:c.-139+452G>A | XP_016865055.1:n.-139+452G>A | |
| XM_024446110.1:c.-90+34561G>A | XP_024301878.1:n.-90+34561G>A | |
| XM_024446112.1:c.-90+34561G>A | XP_024301880.1:n.-90+34561G>A | |
| NM_001165899.2:c.-90+452G>A | NP_001159371.1:n.-90+452G>A | |
| NM_001349241.2:c.-193+452G>A | NP_001336170.1:n.-193+452G>A | |
| NM_001349243.2:c.-674+452G>A | NP_001336172.1:n.-674+452G>A |