Linked Data
dbSNP Id:
rs222747
ExAC:
17:3493200 C / G
gnomAD v2:
17-3493200-C-G
gnomAD v3:
17-3589906-C-G
gnomAD v4:
17-3589906-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3589906C>G , CM000679.2:g.3589906C>G | GRCh38 |
| NC_000017.10:g.3493200C>G , CM000679.1:g.3493200C>G | GRCh37 |
| NC_000017.9:g.3439949C>G | NCBI36 |
| NG_029716.1:g.24506G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000572705.2:c.945G>C MANE Select | ENSP00000459962.1:p.Met315Ile | |
| ENST00000650505.1:c.945G>C | ENSP00000497337.1:p.Met315Ile | |
| ENST00000310522.5:c.945G>C | ENSP00000311692.5:p.Met315Ile | |
| ENST00000399756.8:c.945G>C | ENSP00000382659.4:p.Met315Ile | |
| ENST00000399759.7:c.945G>C | ENSP00000382661.3:p.Met315Ile | |
| ENST00000425167.6:c.945G>C | ENSP00000409627.2:p.Met315Ile | |
| ENST00000571088.5:c.945G>C | ENSP00000461007.1:p.Met315Ile | |
| ENST00000572705.1:c.945G>C | ENSP00000459962.1:p.Met315Ile | |
| ENST00000572919.1:c.*2229G>C | ENSP00000461416.1:n.*2229G>C | |
| ENST00000574085.5:n.1032G>C | ||
| ENST00000576351.5:c.945G>C | ENSP00000459042.1:p.Met315Ile | |
| NM_018727.5:c.945G>C | NP_061197.4:p.Met315Ile | |
| NM_080704.3:c.945G>C | NP_542435.2:p.Met315Ile | |
| NM_080705.3:c.945G>C | NP_542436.2:p.Met315Ile | |
| NM_080706.3:c.945G>C | NP_542437.2:p.Met315Ile | |
| NM_080704.4:c.945G>C MANE Select | NP_542435.2:p.Met315Ile | |
| NM_080705.4:c.945G>C | NP_542436.2:p.Met315Ile |