Linked Data
dbSNP Id:
rs780843272
ExAC:
16:31004504 G / C
gnomAD v3:
16-30993183-G-C
gnomAD v4:
16-30993183-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993183G>C , CM000678.2:g.30993183G>C | GRCh38 |
| NC_000016.9:g.31004504G>C , CM000678.1:g.31004504G>C | GRCh37 |
| NC_000016.8:g.30912005G>C | NCBI36 |
| NG_041829.1:g.22326C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.733C>G MANE Select | ENSP00000215095.5:p.Arg245Gly | |
| ENST00000565419.2:c.733C>G | ENSP00000455899.1:p.Arg245Gly | |
| ENST00000215095.9:c.733C>G | ENSP00000215095.5:p.Arg245Gly | |
| ENST00000565419.1:c.733C>G | ENSP00000455899.1:p.Arg245Gly | |
| ENST00000569638.5:c.481C>G | ENSP00000457067.1:p.Arg161Gly | |
| NM_052874.4:c.733C>G | NP_443106.1:p.Arg245Gly | |
| XM_017022893.1:c.715C>G | XP_016878382.1:p.Arg239Gly | |
| NM_052874.5:c.733C>G MANE Select | NP_443106.1:p.Arg245Gly |