Linked Data
dbSNP Id:
rs1265709417
gnomAD v2:
12-91449424-G-A
gnomAD v3:
12-91055647-G-A
gnomAD v4:
12-91055647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055647G>A , CM000674.2:g.91055647G>A | GRCh38 |
| NC_000012.11:g.91449424G>A , CM000674.1:g.91449424G>A | GRCh37 |
| NC_000012.10:g.89973555G>A | NCBI36 |
| NG_021223.1:g.7708C>T , LRG_538:g.7708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.635C>T MANE Select | ENSP00000266719.3:p.Pro212Leu | |
| ENST00000266719.3:c.635C>T | ENSP00000266719.3:p.Pro212Leu | |
| NM_007035.3:c.635C>T , LRG_538t1:c.635C>T | NP_008966.1:p.Pro212Leu | |
| XM_011537781.1:c.635C>T | XP_011536083.1:p.Pro212Leu | |
| NM_007035.4:c.635C>T MANE Select | NP_008966.1:p.Pro212Leu |