Linked Data
ClinVar Variation Id:
1235938
ClinVar RCV Id:
RCV001619536
dbSNP Id:
rs7711765
gnomAD v2:
5-170832637-C-T
gnomAD v3:
5-171405633-C-T
gnomAD v4:
5-171405633-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.171405633C>T , CM000667.2:g.171405633C>T | GRCh38 |
| NC_000005.9:g.170832637C>T , CM000667.1:g.170832637C>T | GRCh37 |
| NC_000005.8:g.170765242C>T | NCBI36 |
| NG_016018.1:g.22930C>T , LRG_458:g.22930C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296930.10:c.771+230C>T MANE Select | ENSP00000296930.5:n.771+230C>T | |
| ENST00000518587.2:n.965+230C>T | ||
| ENST00000521260.2:n.1149+230C>T | ||
| ENST00000521672.6:c.579+230C>T | ENSP00000429485.2:n.579+230C>T | |
| ENST00000676504.1:n.1517+230C>T | ||
| ENST00000676589.1:c.858+230C>T | ENSP00000503283.1:n.858+230C>T | |
| ENST00000676613.1:c.*215+230C>T | ENSP00000503767.1:n.*215+230C>T | |
| ENST00000676625.1:n.1122C>T | ||
| ENST00000677297.1:c.259-2067C>T | ENSP00000504016.1:n.259-2067C>T | |
| ENST00000677325.1:c.579+230C>T | ENSP00000503781.1:n.579+230C>T | |
| ENST00000677357.1:c.771+230C>T | ENSP00000504740.1:n.771+230C>T | |
| ENST00000677467.1:n.893+230C>T | ||
| ENST00000677600.1:n.786+230C>T | ||
| ENST00000677672.1:n.891+230C>T | ||
| ENST00000677682.1:n.798+230C>T | ||
| ENST00000677741.1:n.2037+230C>T | ||
| ENST00000677904.1:n.1047+230C>T | ||
| ENST00000677907.1:c.492+230C>T | ENSP00000504308.1:n.492+230C>T | |
| ENST00000678186.1:n.938+230C>T | ||
| ENST00000678267.1:c.*569+230C>T | ENSP00000504107.1:n.*569+230C>T | |
| ENST00000678280.1:c.771+230C>T | ENSP00000503235.1:n.771+230C>T | |
| ENST00000678774.1:c.*247+230C>T | ENSP00000503150.1:n.*247+230C>T | |
| ENST00000679006.1:n.892+230C>T | ||
| ENST00000679190.1:c.247-2086C>T | ENSP00000503408.1:n.247-2086C>T | |
| ENST00000679233.1:c.*38+230C>T | ENSP00000503717.1:n.*38+230C>T | |
| ENST00000296930.9:c.771+230C>T | ENSP00000296930.5:n.771+230C>T | |
| ENST00000351986.10:c.684+230C>T | ENSP00000341168.6:n.684+230C>T | |
| ENST00000393820.2:c.771+230C>T | ENSP00000377408.2:n.771+230C>T | |
| ENST00000517671.5:c.771+230C>T | ENSP00000428755.1:n.771+230C>T | |
| ENST00000519955.1:n.472C>T | ||
| NM_001037738.2:c.771+230C>T | NP_001032827.1:n.771+230C>T | |
| NM_002520.6:c.771+230C>T , LRG_458t1:c.771+230C>T | NP_002511.1:n.771+230C>T | |
| NM_199185.3:c.684+230C>T | NP_954654.1:n.684+230C>T | |
| XM_005265920.2:c.684+230C>T | XP_005265977.1:n.684+230C>T | |
| XM_011534564.1:c.579+230C>T | XP_011532866.1:n.579+230C>T | |
| NM_001355006.1:c.771+230C>T | NP_001341935.1:n.771+230C>T | |
| NM_001355007.1:c.579+230C>T | NP_001341936.1:n.579+230C>T | |
| NM_001355009.1:c.684+230C>T | NP_001341938.1:n.684+230C>T | |
| NM_001355010.1:c.390+230C>T | NP_001341939.1:n.390+230C>T | |
| NR_149149.1:n.888+230C>T | ||
| NM_001037738.3:c.771+230C>T | NP_001032827.1:n.771+230C>T | |
| NM_001355009.2:c.684+230C>T | NP_001341938.1:n.684+230C>T | |
| NM_001355006.2:c.771+230C>T | NP_001341935.1:n.771+230C>T | |
| NM_001355007.2:c.579+230C>T | NP_001341936.1:n.579+230C>T | |
| NM_001355010.2:c.390+230C>T | NP_001341939.1:n.390+230C>T | |
| NM_002520.7:c.771+230C>T MANE Select | NP_002511.1:n.771+230C>T | |
| NM_199185.4:c.684+230C>T | NP_954654.1:n.684+230C>T | |
| NR_149149.2:n.743+230C>T |