Linked Data
dbSNP Id:
rs1253954197
gnomAD v2:
4-100539941-C-G
gnomAD v3:
4-99618784-C-G
gnomAD v4:
4-99618784-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99618784C>G , CM000666.2:g.99618784C>G | GRCh38 |
| NC_000004.11:g.100539941C>G , CM000666.1:g.100539941C>G | GRCh37 |
| NC_000004.10:g.100758964C>G | NCBI36 |
| NG_011469.1:g.59702C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265517.10:c.2218-190C>G MANE Select | ENSP00000265517.5:n.2218-190C>G | |
| ENST00000457717.6:c.2218-190C>G | ENSP00000400821.1:n.2218-190C>G | |
| ENST00000511045.6:c.1969-190C>G | ENSP00000427679.2:n.1969-190C>G | |
| ENST00000265517.9:c.2218-190C>G | ENSP00000265517.5:n.2218-190C>G | |
| ENST00000457717.5:c.2218-190C>G | ENSP00000400821.1:n.2218-190C>G | |
| ENST00000511045.5:c.2299-190C>G | ENSP00000427679.1:n.2299-190C>G | |
| ENST00000619629.1:c.*665-190C>G | ENSP00000482850.1:n.*665-190C>G | |
| NM_000253.3:c.2218-190C>G | NP_000244.2:n.2218-190C>G | |
| NM_001300785.1:c.2299-190C>G | NP_001287714.1:n.2299-190C>G | |
| NM_000253.4:c.2218-190C>G | NP_000244.2:n.2218-190C>G | |
| NM_001300785.2:c.1969-190C>G | NP_001287714.2:n.1969-190C>G | |
| NM_001386140.1:c.2218-190C>G MANE Select | NP_001373069.1:n.2218-190C>G |