Linked Data
dbSNP Id:
rs1035532354
gnomAD v2:
2-203242619-C-G
gnomAD v3:
2-202377896-C-G
gnomAD v4:
2-202377896-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202377896C>G , CM000664.2:g.202377896C>G | GRCh38 |
| NC_000002.11:g.203242619C>G , CM000664.1:g.203242619C>G | GRCh37 |
| NC_000002.10:g.202950864C>G | NCBI36 |
| NG_009363.1:g.6570C>G , LRG_712:g.6570C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.76+346C>G MANE Select | ENSP00000363708.4:n.76+346C>G | |
| ENST00000374574.2:c.76+346C>G | ENSP00000363702.2:n.76+346C>G | |
| ENST00000374580.8:c.76+346C>G | ENSP00000363708.4:n.76+346C>G | |
| NM_001204.6:c.76+346C>G , LRG_712t1:c.76+346C>G | NP_001195.2:n.76+346C>G | |
| XM_011511687.1:c.76+346C>G | XP_011509989.1:n.76+346C>G | |
| XM_011511688.1:c.76+346C>G | XP_011509990.1:n.76+346C>G | |
| NM_001204.7:c.76+346C>G MANE Select | NP_001195.2:n.76+346C>G |