Linked Data
dbSNP Id:
rs1357402359
gnomAD v2:
6-32170468-G-C
gnomAD v3:
6-32202691-G-C
gnomAD v4:
6-32202691-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32202691G>C , CM000668.2:g.32202691G>C | GRCh38 |
| NC_000006.11:g.32170468G>C , CM000668.1:g.32170468G>C | GRCh37 |
| NC_000006.10:g.32278446G>C | NCBI36 |
| NG_028190.1:g.26377C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.3232-92C>G MANE Select | ENSP00000364163.3:n.3232-92C>G | |
| ENST00000474612.1:n.1226C>G | ||
| NM_004557.3:c.3232-92C>G | NP_004548.3:n.3232-92C>G | |
| NR_134949.1:n.3472+1079C>G | ||
| NR_134950.1:n.3370+1079C>G | ||
| NM_004557.4:c.3232-92C>G MANE Select | NP_004548.3:n.3232-92C>G | |
| NR_134949.2:n.3472+1079C>G | ||
| NR_134950.2:n.3370+1079C>G |