Linked Data
dbSNP Id:
rs538913317
gnomAD v2:
4-68797920-G-C
gnomAD v3:
4-67932202-G-C
gnomAD v4:
4-67932202-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67932202G>C , CM000666.2:g.67932202G>C | GRCh38 |
| NC_000004.11:g.68797920G>C , CM000666.1:g.68797920G>C | GRCh37 |
| NC_000004.10:g.68480515G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508048.6:c.253-142C>G MANE Select | ENSP00000426911.2:n.253-142C>G | |
| ENST00000334830.11:c.262-142C>G | ENSP00000334611.7:n.262-142C>G | |
| ENST00000396188.3:c.253-142C>G | ENSP00000379491.3:n.253-142C>G | |
| ENST00000508048.5:c.253-142C>G | ENSP00000426911.2:n.253-142C>G | |
| ENST00000513536.5:c.193-142C>G | ENSP00000427621.1:n.193-142C>G | |
| NM_001114387.1:c.253-142C>G | NP_001107859.1:n.253-142C>G | |
| NM_182606.3:c.262-142C>G | NP_872412.3:n.262-142C>G | |
| NM_001114387.2:c.253-142C>G MANE Select | NP_001107859.1:n.253-142C>G | |
| NM_182606.4:c.262-142C>G | NP_872412.3:n.262-142C>G |