Linked Data
dbSNP Id:
rs1447285
gnomAD v2:
4-5084925-T-C
gnomAD v3:
4-5083198-T-C
gnomAD v4:
4-5083198-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5083198T>C , CM000666.2:g.5083198T>C | GRCh38 |
| NC_000004.11:g.5084925T>C , CM000666.1:g.5084925T>C | GRCh37 |
| NC_000004.10:g.5135826T>C | NCBI36 |
| NG_051593.1:g.36876T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282908.10:c.52+31283T>C MANE Select | ENSP00000282908.5:n.52+31283T>C | |
| ENST00000282908.9:c.52+31283T>C | ENSP00000282908.5:n.52+31283T>C | |
| ENST00000512018.5:c.52+31283T>C | ENSP00000422820.1:n.52+31283T>C | |
| NM_001306082.1:c.-200+31283T>C | NP_001293011.1:n.-200+31283T>C | |
| NM_018401.1:c.52+31283T>C | NP_060871.1:n.52+31283T>C | |
| NM_018401.2:c.52+31283T>C | NP_060871.1:n.52+31283T>C | |
| XM_011513497.1:c.52+31283T>C | XP_011511799.1:n.52+31283T>C | |
| XM_011513498.1:c.52+31283T>C | XP_011511800.1:n.52+31283T>C | |
| XM_011513499.1:c.52+31283T>C | XP_011511801.1:n.52+31283T>C | |
| XM_011513500.1:c.52+31283T>C | XP_011511802.1:n.52+31283T>C | |
| XM_011513502.1:c.52+31283T>C | XP_011511804.1:n.52+31283T>C | |
| NM_001345969.1:c.52+31283T>C | NP_001332898.1:n.52+31283T>C | |
| NM_018401.3:c.52+31283T>C MANE Select | NP_060871.1:n.52+31283T>C | |
| NM_001306082.2:c.-200+31283T>C | NP_001293011.1:n.-200+31283T>C | |
| NM_001345969.2:c.52+31283T>C | NP_001332898.1:n.52+31283T>C |