Linked Data
dbSNP Id:
rs10800485
gnomAD v2:
1-169847146-C-T
gnomAD v3:
1-169878005-C-T
gnomAD v4:
1-169878005-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169878005C>T , CM000663.2:g.169878005C>T | GRCh38 |
| NC_000001.10:g.169847146C>T , CM000663.1:g.169847146C>T | GRCh37 |
| NC_000001.9:g.168113770C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367771.11:c.351+629G>A MANE Select | ENSP00000356745.5:n.351+629G>A | |
| ENST00000367770.5:c.351+629G>A | ENSP00000356744.1:n.351+629G>A | |
| ENST00000367771.10:c.351+629G>A | ENSP00000356745.5:n.351+629G>A | |
| ENST00000367772.8:c.351+629G>A | ENSP00000356746.4:n.351+629G>A | |
| ENST00000423670.1:c.351+629G>A | ENSP00000407993.1:n.351+629G>A | |
| ENST00000470238.1:n.566+629G>A | ||
| NM_020423.6:c.351+629G>A | NP_065156.5:n.351+629G>A | |
| NM_181093.3:c.351+629G>A | NP_851607.2:n.351+629G>A | |
| XM_006711465.1:c.351+629G>A | XP_006711528.1:n.351+629G>A | |
| XM_006711467.2:c.351+629G>A | XP_006711530.1:n.351+629G>A | |
| XM_011509801.1:c.351+629G>A | XP_011508103.1:n.351+629G>A | |
| XM_011509802.1:c.-76+629G>A | XP_011508104.1:n.-76+629G>A | |
| XM_011509803.1:c.-76+629G>A | XP_011508105.1:n.-76+629G>A | |
| XM_017001862.1:c.351+629G>A | XP_016857351.1:n.351+629G>A | |
| XM_017001863.1:c.351+629G>A | XP_016857352.1:n.351+629G>A | |
| XM_017001864.1:c.-76+629G>A | XP_016857353.1:n.-76+629G>A | |
| XM_017001865.1:c.-76+629G>A | XP_016857354.1:n.-76+629G>A | |
| XM_024448565.1:c.-801+629G>A | XP_024304333.1:n.-801+629G>A | |
| XR_001737335.2:n.549+629G>A | ||
| XR_001737336.2:n.549+629G>A | ||
| NM_020423.7:c.351+629G>A MANE Select | NP_065156.5:n.351+629G>A | |
| NM_181093.4:c.351+629G>A | NP_851607.2:n.351+629G>A |