Linked Data
dbSNP Id:
rs776392148
ExAC:
12:5153910 G / C
gnomAD v2:
12-5153910-G-C
gnomAD v4:
12-5044744-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044744G>C , CM000674.2:g.5044744G>C | GRCh38 |
| NC_000012.11:g.5153910G>C , CM000674.1:g.5153910G>C | GRCh37 |
| NC_000012.10:g.5024171G>C | NCBI36 |
| NG_012198.1:g.5826G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.597G>C MANE Select | ENSP00000252321.3:p.Glu199Asp | |
| ENST00000252321.4:c.597G>C | ENSP00000252321.3:p.Glu199Asp | |
| NM_002234.3:c.597G>C | NP_002225.2:p.Glu199Asp | |
| NM_002234.4:c.597G>C MANE Select | NP_002225.2:p.Glu199Asp |