Linked Data
ClinVar Variation Id:
299251
dbSNP Id:
rs143957922
ExAC:
10:13330437 G / C
gnomAD v2:
10-13330437-G-C
gnomAD v3:
10-13288437-G-C
gnomAD v4:
10-13288437-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13288437G>C , CM000672.2:g.13288437G>C | GRCh38 |
| NC_000010.10:g.13330437G>C , CM000672.1:g.13330437G>C | GRCh37 |
| NC_000010.9:g.13370443G>C | NCBI36 |
| NG_012862.1:g.16694C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.601C>G MANE Select | ENSP00000263038.4:p.Arg201Gly | |
| ENST00000263038.8:c.601C>G | ENSP00000263038.4:p.Arg201Gly | |
| ENST00000396913.6:c.301C>G | ENSP00000380121.2:p.Arg101Gly | |
| ENST00000396920.7:c.550C>G | ENSP00000380126.3:p.Arg184Gly | |
| ENST00000453759.6:c.301C>G | ENSP00000412525.2:p.Arg101Gly | |
| ENST00000479604.1:c.607C>G | ENSP00000420117.1:p.Arg203Gly | |
| NM_001037537.1:c.301C>G | NP_001032626.1:p.Arg101Gly | |
| NM_006214.3:c.601C>G | NP_006205.1:p.Arg201Gly | |
| XM_005252469.2:c.460-4598C>G | XP_005252526.1:n.460-4598C>G | |
| NM_001323080.1:c.301C>G | NP_001310009.1:p.Arg101Gly | |
| NM_001323082.1:c.607C>G | NP_001310011.1:p.Arg203Gly | |
| NM_001323083.1:c.415-4598C>G | NP_001310012.1:n.415-4598C>G | |
| NM_001323084.1:c.307C>G | NP_001310013.1:p.Arg103Gly | |
| NM_006214.4:c.601C>G MANE Select | NP_006205.1:p.Arg201Gly | |
| NM_001037537.2:c.301C>G | NP_001032626.1:p.Arg101Gly | |
| NM_001323080.2:c.301C>G | NP_001310009.1:p.Arg101Gly | |
| NM_001323082.2:c.607C>G | NP_001310011.1:p.Arg203Gly | |
| NM_001323083.2:c.415-4598C>G | NP_001310012.1:n.415-4598C>G | |
| NM_001323084.2:c.307C>G | NP_001310013.1:p.Arg103Gly |