Linked Data
dbSNP Id:
rs773690157
ExAC:
5:134364507 G / C
gnomAD v2:
5-134364507-G-C
gnomAD v4:
5-135028817-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028817G>C , CM000667.2:g.135028817G>C | GRCh38 |
| NC_000005.9:g.134364507G>C , CM000667.1:g.134364507G>C | GRCh37 |
| NC_000005.8:g.134392406G>C | NCBI36 |
| NG_012114.1:g.10458C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.907C>G MANE Select | ENSP00000265340.6:p.Pro303Ala | |
| ENST00000265340.11:c.907C>G | ENSP00000265340.6:p.Pro303Ala | |
| ENST00000506438.5:c.907C>G | ENSP00000427542.1:p.Pro303Ala | |
| NM_002653.4:c.907C>G | NP_002644.4:p.Pro303Ala | |
| NM_002653.5:c.907C>G MANE Select | NP_002644.4:p.Pro303Ala |