Linked Data
dbSNP Id:
rs1229820781
gnomAD v2:
16-30198041-G-C
gnomAD v3:
16-30186720-G-C
gnomAD v4:
16-30186720-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30186720G>C , CM000678.2:g.30186720G>C | GRCh38 |
| NC_000016.9:g.30198041G>C , CM000678.1:g.30198041G>C | GRCh37 |
| NC_000016.8:g.30105542G>C | NCBI36 |
| NG_023415.1:g.8116G>C , LRG_195:g.8116G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696217.1:n.307G>C | ||
| ENST00000219150.10:c.321G>C MANE Select | ENSP00000219150.6:p.Met107Ile | |
| ENST00000219150.9:c.321G>C | ENSP00000219150.5:p.Met107Ile | |
| ENST00000561815.5:c.429G>C | ENSP00000456756.1:p.Met143Ile | |
| ENST00000563778.5:c.321G>C | ENSP00000456266.1:p.Met107Ile | |
| ENST00000564768.1:n.39G>C | ||
| ENST00000565497.5:c.321G>C | ENSP00000456457.1:p.Met107Ile | |
| ENST00000567034.5:n.789G>C | ||
| ENST00000568763.1:n.1633G>C | ||
| ENST00000568982.5:n.439G>C | ||
| ENST00000569203.5:c.321G>C | ENSP00000454752.1:p.Met107Ile | |
| ENST00000569469.1:n.431G>C | ||
| ENST00000569970.1:c.321G>C | ENSP00000457509.1:p.Met107Ile | |
| ENST00000570045.5:c.321G>C | ENSP00000455552.1:p.Met107Ile | |
| ENST00000570244.5:c.199-96G>C | ENSP00000457332.1:n.199-96G>C | |
| NM_001193333.2:c.321G>C | NP_001180262.1:p.Met107Ile | |
| NM_007074.3:c.321G>C | NP_009005.1:p.Met107Ile | |
| XM_011545714.1:c.321G>C | XP_011544016.1:p.Met107Ile | |
| XM_011545714.2:c.321G>C | XP_011544016.1:p.Met107Ile | |
| XM_017022885.2:c.321G>C | XP_016878374.1:p.Met107Ile | |
| XM_017022886.1:c.321G>C | XP_016878375.1:p.Met107Ile | |
| NM_007074.4:c.321G>C MANE Select | NP_009005.1:p.Met107Ile | |
| NM_001193333.3:c.321G>C | NP_001180262.1:p.Met107Ile |