Linked Data
dbSNP Id:
rs770168873
ExAC:
12:91449470 G / C
gnomAD v2:
12-91449470-G-C
gnomAD v4:
12-91055693-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055693G>C , CM000674.2:g.91055693G>C | GRCh38 |
| NC_000012.11:g.91449470G>C , CM000674.1:g.91449470G>C | GRCh37 |
| NC_000012.10:g.89973601G>C | NCBI36 |
| NG_021223.1:g.7662C>G , LRG_538:g.7662C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.589C>G MANE Select | ENSP00000266719.3:p.Leu197Val | |
| ENST00000266719.3:c.589C>G | ENSP00000266719.3:p.Leu197Val | |
| NM_007035.3:c.589C>G , LRG_538t1:c.589C>G | NP_008966.1:p.Leu197Val | |
| XM_011537781.1:c.589C>G | XP_011536083.1:p.Leu197Val | |
| NM_007035.4:c.589C>G MANE Select | NP_008966.1:p.Leu197Val |