Linked Data
dbSNP Id:
rs148674752
ExAC:
1:215824086 C / G
gnomAD v2:
1-215824086-C-G
gnomAD v3:
1-215650744-C-G
gnomAD v4:
1-215650744-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215650744C>G , CM000663.2:g.215650744C>G | GRCh38 |
| NC_000001.10:g.215824086C>G , CM000663.1:g.215824086C>G | GRCh37 |
| NC_000001.9:g.213890709C>G | NCBI36 |
| NG_009497.1:g.777653G>C | |
| NG_009497.2:g.777705G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.14191G>C MANE Select | ENSP00000305941.3:p.Gly4731Arg | |
| ENST00000674083.1:c.14191G>C | ENSP00000501296.1:p.Gly4731Arg | |
| ENST00000307340.7:c.14191G>C | ENSP00000305941.3:p.Gly4731Arg | |
| NM_206933.2:c.14191G>C | NP_996816.2:p.Gly4731Arg | |
| NM_206933.3:c.14191G>C | NP_996816.2:p.Gly4731Arg | |
| NM_206933.4:c.14191G>C MANE Select | NP_996816.3:p.Gly4731Arg |