Linked Data
dbSNP Id:
rs1212864397
gnomAD v2:
2-29551685-C-T
gnomAD v3:
2-29328819-C-T
gnomAD v4:
2-29328819-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328819C>T , CM000664.2:g.29328819C>T | GRCh38 |
| NC_000002.11:g.29551685C>T , CM000664.1:g.29551685C>T | GRCh37 |
| NC_000002.10:g.29405189C>T | NCBI36 |
| NG_009445.1:g.597748G>A , LRG_488:g.597748G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1283-338G>A MANE Select | ENSP00000373700.3:n.1283-338G>A | |
| ENST00000389048.7:c.1283-338G>A | ENSP00000373700.3:n.1283-338G>A | |
| ENST00000618119.4:c.152-338G>A | ENSP00000482733.1:n.152-338G>A | |
| NM_004304.4:c.1283-338G>A | NP_004295.2:n.1283-338G>A | |
| XR_939920.1:n.818-106C>T | ||
| XR_939921.1:n.680+6291C>T | ||
| XR_001738688.2:n.2213-338G>A | ||
| XR_939920.2:n.708-106C>T | ||
| XR_939921.2:n.576+6291C>T | ||
| NM_004304.5:c.1283-338G>A MANE Select | NP_004295.2:n.1283-338G>A |