Linked Data
dbSNP Id:
rs1217222480
gnomAD v2:
1-196965211-G-C
gnomAD v3:
1-196996081-G-C
gnomAD v4:
1-196996081-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996081G>C , CM000663.2:g.196996081G>C | GRCh38 |
| NC_000001.10:g.196965211G>C , CM000663.1:g.196965211G>C | GRCh37 |
| NC_000001.9:g.195231834G>C | NCBI36 |
| NG_016365.1:g.23545G>C , LRG_227:g.23545G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.595G>C | ENSP00000514393.1:p.Val199Leu | |
| ENST00000699467.1:n.919G>C | ||
| ENST00000699468.1:c.-24-33G>C | ENSP00000514394.1:n.-24-33G>C | |
| ENST00000256785.5:c.850G>C MANE Select | ENSP00000256785.4:p.Val284Leu | |
| ENST00000256785.4:c.850G>C | ENSP00000256785.4:p.Val284Leu | |
| NM_030787.3:c.850G>C , LRG_227t1:c.850G>C | NP_110414.1:p.Val284Leu | |
| XM_011510020.1:c.859G>C | XP_011508322.1:p.Val287Leu | |
| XM_011510020.2:c.859G>C | XP_011508322.1:p.Val287Leu | |
| NM_030787.4:c.850G>C MANE Select | NP_110414.1:p.Val284Leu |