Linked Data
dbSNP Id:
rs756797003
gnomAD v2:
11-118183199-G-C
gnomAD v3:
11-118312484-G-C
gnomAD v4:
11-118312484-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312484G>C , CM000673.2:g.118312484G>C | GRCh38 |
| NC_000011.9:g.118183199G>C , CM000673.1:g.118183199G>C | GRCh37 |
| NC_000011.8:g.117688409G>C | NCBI36 |
| NG_007383.1:g.12905G>C , LRG_38:g.12905G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.104-134G>C MANE Select | ENSP00000354566.4:n.104-134G>C | |
| ENST00000361763.8:c.104-134G>C | ENSP00000354566.4:n.104-134G>C | |
| ENST00000526146.5:n.516G>C | ||
| ENST00000528435.5:n.523G>C | ||
| ENST00000528600.1:c.86-134G>C | ENSP00000433975.1:n.86-134G>C | |
| ENST00000529713.5:n.210-134G>C | ||
| ENST00000531913.1:n.341G>C | ||
| NM_000733.3:c.104-134G>C , LRG_38t1:c.104-134G>C | NP_000724.1:n.104-134G>C | |
| NM_000733.4:c.104-134G>C MANE Select | NP_000724.1:n.104-134G>C |