Linked Data
dbSNP Id:
rs765406427
ExAC:
11:116703650 G / C
gnomAD v2:
11-116703650-G-C
gnomAD v4:
11-116832934-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832934G>C , CM000673.2:g.116832934G>C | GRCh38 |
| NC_000011.9:g.116703650G>C , CM000673.1:g.116703650G>C | GRCh37 |
| NC_000011.8:g.116208860G>C | NCBI36 |
| NG_008949.1:g.8027G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.*50G>C MANE Select | ENSP00000227667.2:n.*50G>C | |
| ENST00000227667.7:c.*50G>C | ENSP00000227667.2:n.*50G>C | |
| ENST00000375345.3:c.*50G>C | ENSP00000364494.1:n.*50G>C | |
| ENST00000630701.1:c.404G>C | ENSP00000486182.1:n.404G>C | |
| NM_000040.1:c.*50G>C | NP_000031.1:n.*50G>C | |
| NM_000040.2:c.*50G>C | NP_000031.1:n.*50G>C | |
| NM_000040.3:c.*50G>C MANE Select | NP_000031.1:n.*50G>C |