Linked Data
ClinVar Variation Id:
372794
dbSNP Id:
rs368472521
gnomAD v2:
3-58064474-C-T
gnomAD v3:
3-58078747-C-T
gnomAD v4:
3-58078747-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58078747C>T , CM000665.2:g.58078747C>T | GRCh38 |
| NC_000003.11:g.58064474C>T , CM000665.1:g.58064474C>T | GRCh37 |
| NC_000003.10:g.58039514C>T | NCBI36 |
| NG_012801.1:g.75348C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682097.1:c.572C>T | ENSP00000508183.1:p.Pro191Leu | |
| ENST00000682868.1:n.715C>T | ||
| ENST00000682871.1:c.572C>T | ENSP00000507805.1:p.Pro191Leu | |
| ENST00000682987.1:n.715C>T | ||
| ENST00000683511.1:n.731C>T | ||
| ENST00000684107.1:c.572C>T | ENSP00000507440.1:p.Pro191Leu | |
| ENST00000684506.1:c.572C>T | ENSP00000507728.1:p.Pro191Leu | |
| ENST00000684517.1:c.572C>T | ENSP00000507828.1:p.Pro191Leu | |
| ENST00000684607.1:c.572C>T | ENSP00000508224.1:p.Pro191Leu | |
| ENST00000295956.9:c.572C>T MANE Select | ENSP00000295956.5:p.Pro191Leu | |
| ENST00000295956.8:c.572C>T | ENSP00000295956.4:p.Pro191Leu | |
| ENST00000358537.7:c.572C>T | ENSP00000351339.3:p.Pro191Leu | |
| ENST00000429972.6:c.572C>T | ENSP00000415599.2:p.Pro191Leu | |
| ENST00000490882.5:c.572C>T | ENSP00000420213.1:p.Pro191Leu | |
| ENST00000493452.5:c.65C>T | ENSP00000418510.1:p.Pro22Leu | |
| NM_001164317.1:c.572C>T | NP_001157789.1:p.Pro191Leu | |
| NM_001164318.1:c.572C>T | NP_001157790.1:p.Pro191Leu | |
| NM_001164319.1:c.572C>T | NP_001157791.1:p.Pro191Leu | |
| NM_001457.3:c.572C>T | NP_001448.2:p.Pro191Leu | |
| XM_005264977.1:c.572C>T | XP_005265034.1:p.Pro191Leu | |
| XM_005264978.1:c.572C>T | XP_005265035.1:p.Pro191Leu | |
| XM_005264981.1:c.572C>T | XP_005265038.1:p.Pro191Leu | |
| XR_940396.1:n.717C>T | ||
| XM_005264978.2:c.572C>T | XP_005265035.1:p.Pro191Leu | |
| XR_001740065.1:n.717C>T | ||
| XR_940396.2:n.717C>T | ||
| NM_001164317.2:c.572C>T | NP_001157789.1:p.Pro191Leu | |
| NM_001164318.2:c.572C>T | NP_001157790.1:p.Pro191Leu | |
| NM_001164319.2:c.572C>T | NP_001157791.1:p.Pro191Leu | |
| NM_001457.4:c.572C>T MANE Select | NP_001448.2:p.Pro191Leu |