Linked Data
dbSNP Id:
rs1391910724
gnomAD v2:
11-113281512-G-C
gnomAD v3:
11-113410790-G-C
gnomAD v4:
11-113410790-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113410790G>C , CM000673.2:g.113410790G>C | GRCh38 |
| NC_000011.9:g.113281512G>C , CM000673.1:g.113281512G>C | GRCh37 |
| NC_000011.8:g.112786722G>C | NCBI36 |
| NG_008841.1:g.69490C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.1269C>G MANE Select | ENSP00000354859.3:p.Pro423= | |
| ENST00000346454.7:c.1182C>G | ENSP00000278597.5:p.Pro394= | |
| ENST00000362072.7:c.1269C>G | ENSP00000354859.3:p.Pro423= | |
| ENST00000538967.5:c.1275C>G | ENSP00000438215.1:p.Pro425= | |
| ENST00000542968.5:c.1269C>G | ENSP00000442172.1:p.Pro423= | |
| ENST00000544518.5:c.1266C>G | ENSP00000441068.1:p.Pro422= | |
| NM_000795.3:c.1269C>G | NP_000786.1:p.Pro423= | |
| NM_016574.3:c.1182C>G | NP_057658.2:p.Pro394= | |
| XM_017017296.2:c.1269C>G | XP_016872785.1:p.Pro423= | |
| NM_000795.4:c.1269C>G MANE Select | NP_000786.1:p.Pro423= | |
| NM_016574.4:c.1182C>G | NP_057658.2:p.Pro394= |