Linked Data
dbSNP Id:
rs35219727
gnomAD v2:
2-204734049-G-A
gnomAD v3:
2-203869326-G-A
gnomAD v4:
2-203869326-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203869326G>A , CM000664.2:g.203869326G>A | GRCh38 |
| NC_000002.11:g.204734049G>A , CM000664.1:g.204734049G>A | GRCh37 |
| NC_000002.10:g.204442294G>A | NCBI36 |
| NG_011502.1:g.6541G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696049.1:c.110-1260G>A | ENSP00000512353.1:n.110-1260G>A | |
| ENST00000696479.1:c.182-1260G>A | ENSP00000512655.1:n.182-1260G>A | |
| ENST00000648405.2:c.110-1260G>A MANE Select | ENSP00000497102.1:n.110-1260G>A | |
| ENST00000295854.10:c.110-1260G>A | ENSP00000295854.6:n.110-1260G>A | |
| ENST00000302823.7:c.110-1260G>A | ENSP00000303939.3:n.110-1260G>A | |
| ENST00000472206.1:c.110-1260G>A | ENSP00000417779.1:n.110-1260G>A | |
| ENST00000487393.1:n.109+1275G>A | ||
| NM_001037631.2:c.110-1260G>A | NP_001032720.1:n.110-1260G>A | |
| NM_005214.4:c.110-1260G>A | NP_005205.2:n.110-1260G>A | |
| XR_241294.1:n.250-1260G>A | ||
| NM_001037631.3:c.110-1260G>A | NP_001032720.1:n.110-1260G>A | |
| NM_005214.5:c.110-1260G>A MANE Select | NP_005205.2:n.110-1260G>A |