Linked Data
ClinVar Variation Id:
2958729
dbSNP Id:
rs369337074
gnomAD v2:
5-151055693-A-G
gnomAD v4:
5-151676132-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151676132A>G , CM000667.2:g.151676132A>G | GRCh38 |
| NC_000005.9:g.151055693A>G , CM000667.1:g.151055693A>G | GRCh37 |
| NC_000005.8:g.151035886A>G | NCBI36 |
| NG_042174.1:g.15923T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539687.6:c.57T>C | ENSP00000444998.2:p.Pro19= | |
| ENST00000231061.9:c.57T>C MANE Select | ENSP00000231061.4:p.Pro19= | |
| ENST00000231061.8:c.57T>C | ENSP00000231061.4:p.Pro19= | |
| ENST00000521327.1:n.181T>C | ||
| ENST00000521569.1:c.-153-2916T>C | ENSP00000428119.1:n.-153-2916T>C | |
| ENST00000522348.1:c.57T>C | ENSP00000429152.1:p.Pro19= | |
| ENST00000538026.5:c.-65-4438T>C | ENSP00000440127.1:n.-65-4438T>C | |
| ENST00000539687.5:c.57T>C | ENSP00000444998.1:p.Pro19= | |
| NM_001309443.1:c.57T>C | NP_001296372.1:p.Pro19= | |
| NM_001309444.1:c.57T>C | NP_001296373.1:p.Pro19= | |
| NM_003118.3:c.57T>C | NP_003109.1:p.Pro19= | |
| NM_003118.4:c.57T>C MANE Select | NP_003109.1:p.Pro19= | |
| NM_001309443.2:c.57T>C | NP_001296372.1:p.Pro19= | |
| NM_001309444.2:c.57T>C | NP_001296373.1:p.Pro19= |