Linked Data
dbSNP Id:
rs966221
gnomAD v2:
5-59502520-A-G
gnomAD v3:
5-60206693-A-G
gnomAD v4:
5-60206693-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60206693A>G , CM000667.2:g.60206693A>G | GRCh38 |
| NC_000005.9:g.59502520A>G , CM000667.1:g.59502520A>G | GRCh37 |
| NC_000005.8:g.59538277A>G | NCBI36 |
| NG_027957.1:g.286406T>C | |
| NG_027957.2:g.322637T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502484.6:c.-89-21006T>C | ENSP00000423094.2:n.-89-21006T>C | |
| ENST00000505507.6:c.-212-18275T>C | ENSP00000425910.2:n.-212-18275T>C | |
| ENST00000506024.5:n.72-21006T>C | ||
| ENST00000506510.6:n.71-21006T>C | ||
| ENST00000509355.5:n.158-21006T>C | ||
| ENST00000509368.6:c.-89-21006T>C | ENSP00000423555.2:n.-89-21006T>C | |
| ENST00000511382.1:n.174-21006T>C | ||
| ENST00000514552.5:c.-89-21006T>C | ENSP00000421829.1:n.-89-21006T>C | |
| ENST00000515835.2:c.-212-18275T>C | ENSP00000424281.2:n.-212-18275T>C | |
| NM_001165899.1:c.-89-21006T>C | NP_001159371.1:n.-89-21006T>C | |
| XM_011543469.1:c.-89-21006T>C | XP_011541771.1:n.-89-21006T>C | |
| XM_011543472.1:c.-89-21006T>C | XP_011541774.1:n.-89-21006T>C | |
| XM_011543473.1:c.-89-21006T>C | XP_011541775.1:n.-89-21006T>C | |
| XM_011543474.1:c.-192-21006T>C | XP_011541776.1:n.-192-21006T>C | |
| NM_001349241.1:c.-192-21006T>C | NP_001336170.1:n.-192-21006T>C | |
| NM_001349243.1:c.-673-21006T>C | NP_001336172.1:n.-673-21006T>C | |
| NM_001364599.1:c.-89-21006T>C | NP_001351528.1:n.-89-21006T>C | |
| NM_001364600.1:c.-89-21006T>C | NP_001351529.1:n.-89-21006T>C | |
| XM_017009565.1:c.-89-21006T>C | XP_016865054.1:n.-89-21006T>C | |
| XM_017009566.1:c.-89-21006T>C | XP_016865055.1:n.-89-21006T>C | |
| XM_024446110.1:c.-89-21006T>C | XP_024301878.1:n.-89-21006T>C | |
| XM_024446112.1:c.-89-21006T>C | XP_024301880.1:n.-89-21006T>C | |
| NM_001165899.2:c.-89-21006T>C | NP_001159371.1:n.-89-21006T>C | |
| NM_001349241.2:c.-192-21006T>C | NP_001336170.1:n.-192-21006T>C | |
| NM_001349243.2:c.-673-21006T>C | NP_001336172.1:n.-673-21006T>C | |
| NM_001364600.2:c.-89-21006T>C | NP_001351529.1:n.-89-21006T>C |