Linked Data
dbSNP Id:
rs1296874378
gnomAD v2:
12-110006662-G-C
gnomAD v3:
12-109568857-G-C
gnomAD v4:
12-109568857-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109568857G>C , CM000674.2:g.109568857G>C | GRCh38 |
| NC_000012.11:g.110006662G>C , CM000674.1:g.110006662G>C | GRCh37 |
| NC_000012.10:g.108491045G>C | NCBI36 |
| NG_007096.1:g.9641C>G | |
| NG_007702.1:g.163G>C , LRG_156:g.163G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.203C>G MANE Select | ENSP00000445920.1:p.Ser68Cys | |
| ENST00000420167.6:c.*32C>G | ENSP00000416136.2:n.*32C>G | |
| ENST00000503497.7:c.203C>G | ENSP00000474881.1:p.Ser68Cys | |
| ENST00000536760.1:n.206C>G | ||
| ENST00000537236.2:c.203C>G | ENSP00000483818.1:p.Ser68Cys | |
| ENST00000537496.5:c.203C>G | ENSP00000444793.1:p.Ser68Cys | |
| ENST00000540016.5:c.135-3681C>G | ENSP00000474582.1:n.135-3681C>G | |
| ENST00000541763.6:c.203C>G | ENSP00000474981.1:p.Ser68Cys | |
| ENST00000542390.5:n.230C>G | ||
| ENST00000544051.5:c.141C>G | ENSP00000438079.1:p.Phe47Leu | |
| ENST00000545712.6:c.203C>G | ENSP00000445920.1:p.Ser68Cys | |
| NM_052845.3:c.203C>G | NP_443077.1:p.Ser68Cys | |
| NR_038118.1:n.276C>G | ||
| XM_024448961.1:c.203C>G | XP_024304729.1:p.Ser68Cys | |
| NM_052845.4:c.203C>G MANE Select | NP_443077.1:p.Ser68Cys | |
| NR_038118.2:n.227C>G |