Linked Data
ClinVar Variation Id:
723993
dbSNP Id:
rs139828333
ExAC:
4:3534059 G / A
gnomAD v2:
4-3534059-G-A
gnomAD v3:
4-3532332-G-A
gnomAD v4:
4-3532332-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3532332G>A , CM000666.2:g.3532332G>A | GRCh38 |
| NC_000004.11:g.3534059G>A , CM000666.1:g.3534059G>A | GRCh37 |
| NC_000004.10:g.3503857G>A | NCBI36 |
| NG_033873.1:g.5166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648517.1:c.81C>T | ENSP00000496947.1:p.Pro27= | |
| ENST00000650182.1:c.81C>T MANE Select | ENSP00000497444.1:p.Pro27= | |
| ENST00000650633.1:n.115C>T | ||
| ENST00000500728.2:c.81C>T | ENSP00000421922.1:p.Pro27= | |
| ENST00000509198.1:n.91C>T | ||
| ENST00000515119.5:c.81C>T | ENSP00000421648.1:p.Pro27= | |
| NM_002337.3:c.81C>T | NP_002328.1:p.Pro27= | |
| NM_002337.4:c.81C>T MANE Select | NP_002328.1:p.Pro27= | |
| XR_002959730.1:n.166C>T |