Linked Data
dbSNP Id:
rs757144883
ExAC:
1:150483370 G / C
gnomAD v2:
1-150483370-G-C
gnomAD v4:
1-150510894-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150510894G>C , CM000663.2:g.150510894G>C | GRCh38 |
| NC_000001.10:g.150483370G>C , CM000663.1:g.150483370G>C | GRCh37 |
| NC_000001.9:g.148749994G>C | NCBI36 |
| NG_012062.1:g.7884G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369047.9:c.404G>C MANE Select | ENSP00000358043.4:p.Gly135Ala | |
| ENST00000346569.6:c.404G>C | ENSP00000271630.6:p.Gly135Ala | |
| ENST00000369047.8:c.404G>C | ENSP00000358043.4:p.Gly135Ala | |
| ENST00000369049.8:c.485G>C | ENSP00000358045.4:p.Gly162Ala | |
| ENST00000470432.5:n.1503G>C | ||
| ENST00000498579.5:n.691G>C | ||
| NM_001202858.1:c.485G>C | NP_001189787.1:p.Gly162Ala | |
| NM_004425.3:c.404G>C | NP_004416.2:p.Gly135Ala | |
| NM_022664.2:c.404G>C | NP_073155.2:p.Gly135Ala | |
| NM_004425.4:c.404G>C MANE Select | NP_004416.2:p.Gly135Ala | |
| NM_001202858.2:c.485G>C | NP_001189787.1:p.Gly162Ala | |
| NM_022664.3:c.404G>C | NP_073155.2:p.Gly135Ala |