Linked Data
dbSNP Id:
rs1325453825
gnomAD v2:
13-23824956-T-G
gnomAD v3:
13-23250817-T-G
gnomAD v4:
13-23250817-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23250817T>G , CM000675.2:g.23250817T>G | GRCh38 |
| NC_000013.10:g.23824956T>G , CM000675.1:g.23824956T>G | GRCh37 |
| NC_000013.9:g.22722956T>G | NCBI36 |
| NG_008759.1:g.74897T>G , LRG_207:g.74897T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218867.4:c.385+100T>G MANE Select | ENSP00000218867.3:n.385+100T>G | |
| ENST00000218867.3:c.385+100T>G | ENSP00000218867.3:n.385+100T>G | |
| NM_000231.2:c.385+100T>G , LRG_207t1:c.385+100T>G | NP_000222.1:n.385+100T>G | |
| XM_005266505.2:c.385+100T>G | XP_005266562.1:n.385+100T>G | |
| XM_006719861.2:c.439+100T>G | XP_006719924.1:n.439+100T>G | |
| XM_006719861.3:c.439+100T>G | XP_006719924.1:n.439+100T>G | |
| XM_024449397.1:c.385+100T>G | XP_024305165.1:n.385+100T>G | |
| NM_000231.3:c.385+100T>G MANE Select | NP_000222.2:n.385+100T>G | |
| NM_001378244.1:c.439+100T>G | NP_001365173.1:n.439+100T>G | |
| NM_001378245.1:c.385+100T>G | NP_001365174.1:n.385+100T>G | |
| NM_001378246.1:c.385+100T>G | NP_001365175.1:n.385+100T>G |