Linked Data
ClinVar Variation Id:
328283
ClinVar RCV Id:
RCV000340244
dbSNP Id:
rs200413076
ExAC:
19:12777381 G / A
gnomAD v2:
19-12777381-G-A
gnomAD v3:
19-12666567-G-A
gnomAD v4:
19-12666567-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12666567G>A , CM000681.2:g.12666567G>A | GRCh38 |
| NC_000019.9:g.12777381G>A , CM000681.1:g.12777381G>A | GRCh37 |
| NC_000019.8:g.12638381G>A | NCBI36 |
| NG_008318.1:g.5211C>T | |
| NG_015814.1:g.4764G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.135C>T MANE Select | ENSP00000395473.2:p.Ala45= | |
| ENST00000221363.8:c.135C>T | ENSP00000221363.4:p.Ala45= | |
| ENST00000456935.6:c.135C>T | ENSP00000395473.2:p.Ala45= | |
| ENST00000466794.5:n.117C>T | ||
| ENST00000486847.2:c.135C>T | ENSP00000470174.1:p.Ala45= | |
| ENST00000596512.5:n.176C>T | ||
| ENST00000597961.1:c.151-762C>T | ENSP00000472710.1:n.151-762C>T | |
| ENST00000598876.1:c.135C>T | ENSP00000470533.1:p.Ala45= | |
| ENST00000600281.1:n.176C>T | ||
| NM_000528.3:c.135C>T | NP_000519.2:p.Ala45= | |
| NM_001173498.1:c.135C>T | NP_001166969.1:p.Ala45= | |
| XM_005259913.1:c.135C>T | XP_005259970.1:p.Ala45= | |
| XM_005259913.2:c.135C>T | XP_005259970.1:p.Ala45= | |
| XM_024451518.1:c.-884C>T | XP_024307286.1:n.-884C>T | |
| NM_000528.4:c.135C>T MANE Select | NP_000519.2:p.Ala45= | |
| NM_001173498.2:c.135C>T | NP_001166969.1:p.Ala45= |