Linked Data
ClinVar Variation Id:
1514388
dbSNP Id:
rs1375251505
gnomAD v2:
16-2096232-C-A
gnomAD v4:
16-2046231-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046231C>A , CM000678.2:g.2046231C>A | GRCh38 |
| NC_000016.9:g.2096232C>A , CM000678.1:g.2096232C>A | GRCh37 |
| NC_000016.8:g.2036233C>A | NCBI36 |
| NG_005895.1:g.1926C>A , LRG_487:g.1926C>A | |
| NG_008412.1:g.6636G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.251G>T MANE Select | ENSP00000498421.1:p.Trp84Leu | |
| ENST00000651583.1:c.206G>T | ENSP00000498821.1:p.Trp69Leu | |
| ENST00000219066.5:c.275G>T | ENSP00000219066.1:p.Trp92Leu | |
| ENST00000561841.1:c.171G>T | ||
| ENST00000566380.5:c.214G>T | ||
| ENST00000568513.5:c.173+49G>T | ||
| NM_002528.5:c.275G>T | NP_002519.1:p.Trp92Leu | |
| XM_011522505.1:c.275G>T | XP_011520807.1:p.Trp92Leu | |
| NM_001318193.1:c.275G>T | NP_001305122.1:p.Trp92Leu | |
| NM_001318194.1:c.24+49G>T | NP_001305123.1:n.24+49G>T | |
| NM_002528.6:c.275G>T | NP_002519.1:p.Trp92Leu | |
| XM_017023253.1:c.275G>T | XP_016878742.1:p.Trp92Leu | |
| NM_001318193.2:c.251G>T | NP_001305122.2:p.Trp84Leu | |
| NM_002528.7:c.251G>T MANE Select | NP_002519.2:p.Trp84Leu | |
| NM_001318194.2:c.24+49G>T | NP_001305123.1:n.24+49G>T |