Linked Data
dbSNP Id:
rs746280108
gnomAD v2:
2-204734637-C-T
gnomAD v3:
2-203869914-C-T
gnomAD v4:
2-203869914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203869914C>T , CM000664.2:g.203869914C>T | GRCh38 |
| NC_000002.11:g.204734637C>T , CM000664.1:g.204734637C>T | GRCh37 |
| NC_000002.10:g.204442882C>T | NCBI36 |
| NG_011502.1:g.7129C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.110-672C>T | ENSP00000512353.1:n.110-672C>T | |
| ENST00000696479.1:c.182-672C>T | ENSP00000512655.1:n.182-672C>T | |
| ENST00000648405.2:c.110-672C>T MANE Select | ENSP00000497102.1:n.110-672C>T | |
| ENST00000295854.10:c.110-672C>T | ENSP00000295854.6:n.110-672C>T | |
| ENST00000302823.7:c.110-672C>T | ENSP00000303939.3:n.110-672C>T | |
| ENST00000472206.1:c.110-672C>T | ENSP00000417779.1:n.110-672C>T | |
| ENST00000487393.1:n.109+1863C>T | ||
| NM_001037631.2:c.110-672C>T | NP_001032720.1:n.110-672C>T | |
| NM_005214.4:c.110-672C>T | NP_005205.2:n.110-672C>T | |
| XR_241294.1:n.250-672C>T | ||
| NM_001037631.3:c.110-672C>T | NP_001032720.1:n.110-672C>T | |
| NM_005214.5:c.110-672C>T MANE Select | NP_005205.2:n.110-672C>T |