Linked Data
ClinVar Variation Id:
12729
ClinVar RCV Id:
RCV000013566
RCV000032398
RCV000489117
RCV000604322
RCV000758251
RCV002255997
RCV002354159
RCV002513013
RCV004541000
dbSNP Id:
rs121918661
ExAC:
5:1294397 C / T
gnomAD v2:
5-1294397-C-T
gnomAD v3:
5-1294282-C-T
gnomAD v4:
5-1294282-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1294282C>T , CM000667.2:g.1294282C>T | GRCh38 |
| NC_000005.9:g.1294397C>T , CM000667.1:g.1294397C>T | GRCh37 |
| NC_000005.8:g.1347397C>T | NCBI36 |
| NG_009265.1:g.5766G>A , LRG_343:g.5766G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.604G>A MANE Select | ENSP00000309572.5:p.Ala202Thr | |
| ENST00000656021.1:c.604G>A | ENSP00000499759.1:p.Ala202Thr | |
| ENST00000310581.9:c.604G>A | ENSP00000309572.5:p.Ala202Thr | |
| ENST00000334602.10:c.604G>A | ENSP00000334346.6:p.Ala202Thr | |
| ENST00000460137.6:c.604G>A | ENSP00000425003.1:p.Ala202Thr | |
| ENST00000508104.2:c.604G>A | ENSP00000426042.2:p.Ala202Thr | |
| NM_001193376.1:c.604G>A | NP_001180305.1:p.Ala202Thr | |
| NM_198253.2:c.604G>A , LRG_343t1:c.604G>A | NP_937983.2:p.Ala202Thr | |
| NR_149162.1:n.662G>A | ||
| NR_149163.1:n.662G>A | ||
| NM_001193376.2:c.604G>A | NP_001180305.1:p.Ala202Thr | |
| NM_198253.3:c.604G>A MANE Select | NP_937983.2:p.Ala202Thr | |
| NR_149162.2:n.683G>A | ||
| NR_149163.2:n.683G>A | ||
| NM_001193376.3:c.604G>A | NP_001180305.1:p.Ala202Thr | |
| NR_149162.3:n.683G>A | ||
| NR_149163.3:n.683G>A |