Linked Data
dbSNP Id:
rs61747292
ExAC:
12:103240679 G / C
gnomAD v2:
12-103240679-G-C
gnomAD v4:
12-102846901-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846901G>C , CM000674.2:g.102846901G>C | GRCh38 |
| NC_000012.11:g.103240679G>C , CM000674.1:g.103240679G>C | GRCh37 |
| NC_000012.10:g.101764809G>C | NCBI36 |
| NG_008690.1:g.75702C>G | |
| NG_008690.2:g.116510C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.963C>G MANE Select | ENSP00000448059.1:p.Leu321= | |
| ENST00000307000.7:c.948C>G | ENSP00000303500.2:p.Leu316= | |
| ENST00000549247.6:n.722C>G | ||
| ENST00000551114.2:n.625C>G | ||
| ENST00000553106.5:c.963C>G | ENSP00000448059.1:p.Leu321= | |
| ENST00000635477.1:c.74-2470C>G | ||
| ENST00000635528.1:n.478C>G | ||
| NM_000277.1:c.963C>G | NP_000268.1:p.Leu321= | |
| XM_011538422.1:c.913-2470C>G | XP_011536724.1:n.913-2470C>G | |
| NM_000277.2:c.963C>G | NP_000268.1:p.Leu321= | |
| NM_001354304.1:c.963C>G | NP_001341233.1:p.Leu321= | |
| NM_000277.3:c.963C>G MANE Select | NP_000268.1:p.Leu321= | |
| NM_001354304.2:c.963C>G | NP_001341233.1:p.Leu321= |