Linked Data
dbSNP Id:
rs141798777
gnomAD v2:
X-37642824-C-G
gnomAD v3:
X-37783571-C-G
gnomAD v4:
X-37783571-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37783571C>G , CM000685.2:g.37783571C>G | GRCh38 |
| NC_000023.10:g.37642824C>G , CM000685.1:g.37642824C>G | GRCh37 |
| NC_000023.9:g.37527768C>G | NCBI36 |
| NG_009065.1:g.8555C>G , LRG_53:g.8555C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.223C>G | ENSP00000512461.1:p.Leu75Val | |
| ENST00000696171.1:c.127C>G | ENSP00000512462.1:p.Leu43Val | |
| ENST00000696172.1:c.223C>G | ENSP00000512463.1:p.Leu75Val | |
| ENST00000696173.1:n.231C>G | ||
| ENST00000378588.5:c.223C>G MANE Select | ENSP00000367851.4:p.Leu75Val | |
| ENST00000378588.4:c.223C>G | ENSP00000367851.4:p.Leu75Val | |
| ENST00000465127.1:c.171+357571C>G | ENSP00000417050.1:n.171+357571C>G | |
| NM_000397.3:c.223C>G , LRG_53t1:c.223C>G | NP_000388.2:p.Leu75Val | |
| XM_011543890.1:c.-208C>G | XP_011542192.1:n.-208C>G | |
| NM_000397.4:c.223C>G MANE Select | NP_000388.2:p.Leu75Val |