Linked Data
ClinVar Variation Id:
2273864
ClinVar RCV Id:
RCV004128290
dbSNP Id:
rs150945534
ExAC:
2:239181740 C / T
gnomAD v2:
2-239181740-C-T
gnomAD v3:
2-238273099-C-T
gnomAD v4:
2-238273099-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238273099C>T , CM000664.2:g.238273099C>T | GRCh38 |
| NC_000002.11:g.239181740C>T , CM000664.1:g.239181740C>T | GRCh37 |
| NC_000002.10:g.238846479C>T | NCBI36 |
| NG_012146.1:g.20468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707129.1:c.541G>A | ENSP00000516757.1:p.Val181Ile | |
| ENST00000707130.1:c.541G>A | ENSP00000516758.1:p.Val181Ile | |
| ENST00000254657.8:c.541G>A MANE Select | ENSP00000254657.3:p.Val181Ile | |
| ENST00000254657.7:c.541G>A | ENSP00000254657.3:p.Val181Ile | |
| ENST00000355768.6:c.541G>A | ENSP00000348013.2:p.Val181Ile | |
| NM_022817.2:c.541G>A | NP_073728.1:p.Val181Ile | |
| XM_005246111.3:c.541G>A | XP_005246168.1:p.Val181Ile | |
| XM_006712824.2:c.541G>A | XP_006712887.1:p.Val181Ile | |
| XM_005246111.4:c.541G>A | XP_005246168.1:p.Val181Ile | |
| XM_006712824.4:c.541G>A | XP_006712887.1:p.Val181Ile | |
| NM_022817.3:c.541G>A MANE Select | NP_073728.1:p.Val181Ile |