Linked Data
dbSNP Id:
rs757332617
ExAC:
5:14716865 G / C
gnomAD v2:
5-14716865-G-C
gnomAD v4:
5-14716756-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716756G>C , CM000667.2:g.14716756G>C | GRCh38 |
| NC_000005.9:g.14716865G>C , CM000667.1:g.14716865G>C | GRCh37 |
| NC_000005.8:g.14769865G>C | NCBI36 |
| NG_008273.1:g.160023C>G | |
| NG_008273.2:g.160030C>G | |
| NG_051625.1:g.60963G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1091C>G MANE Select | ENSP00000284268.6:p.Ala364Gly | |
| ENST00000284268.6:c.1091C>G | ENSP00000284268.6:p.Ala364Gly | |
| ENST00000502585.1:n.333C>G | ||
| NM_054027.4:c.1091C>G | NP_473368.1:p.Ala364Gly | |
| NM_054027.5:c.1091C>G | NP_473368.1:p.Ala364Gly | |
| XM_017009644.2:c.1007C>G | XP_016865133.1:p.Ala336Gly | |
| NM_054027.6:c.1091C>G MANE Select | NP_473368.1:p.Ala364Gly |