Linked Data
ClinVar Variation Id:
191103
dbSNP Id:
rs786205518
gnomAD v2:
19-36322200-T-G
gnomAD v4:
19-35831298-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35831298T>G , CM000681.2:g.35831298T>G | GRCh38 |
| NC_000019.9:g.36322200T>G , CM000681.1:g.36322200T>G | GRCh37 |
| NC_000019.8:g.41014040T>G | NCBI36 |
| NG_013356.2:g.42990A>C , LRG_693:g.42990A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.3385A>C MANE Select | ENSP00000368190.4:p.Thr1129Pro | |
| ENST00000353632.6:c.3265A>C | ENSP00000343634.5:p.Thr1089Pro | |
| ENST00000378910.9:c.3385A>C | ENSP00000368190.4:p.Thr1129Pro | |
| NM_004646.3:c.3385A>C , LRG_693t1:c.3385A>C | NP_004637.1:p.Thr1129Pro | |
| NM_004646.4:c.3385A>C MANE Select | NP_004637.1:p.Thr1129Pro |