Linked Data
ClinVar Variation Id:
499930
dbSNP Id:
rs544500542
gnomAD v2:
2-44102404-G-A
gnomAD v3:
2-43875265-G-A
gnomAD v4:
2-43875265-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875265G>A , CM000664.2:g.43875265G>A | GRCh38 |
| NC_000002.11:g.44102404G>A , CM000664.1:g.44102404G>A | GRCh37 |
| NC_000002.10:g.43955908G>A | NCBI36 |
| NG_008884.1:g.41302G>A | |
| NG_008884.2:g.48324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1608G>A MANE Select | ENSP00000272286.2:p.Trp536Ter | |
| ENST00000272286.2:c.1608G>A | ENSP00000272286.2:p.Trp536Ter | |
| NM_022437.2:c.1608G>A | NP_071882.1:p.Trp536Ter | |
| XM_005264483.2:c.1605G>A | XP_005264540.1:p.Trp535Ter | |
| XM_011533029.1:c.1620G>A | XP_011531331.1:p.Trp540Ter | |
| XM_011533030.1:c.1617G>A | XP_011531332.1:p.Trp539Ter | |
| XM_011533031.1:c.1392G>A | XP_011531333.1:p.Trp464Ter | |
| XR_939707.1:n.2110G>A | ||
| NM_001357321.1:c.1605G>A | NP_001344250.1:p.Trp535Ter | |
| XM_011533029.2:c.1620G>A | XP_011531331.1:p.Trp540Ter | |
| XM_011533030.2:c.1617G>A | XP_011531332.1:p.Trp539Ter | |
| XR_001738891.1:n.2124G>A | ||
| XR_939707.2:n.2124G>A | ||
| NM_022437.3:c.1608G>A MANE Select | NP_071882.1:p.Trp536Ter | |
| NM_001357321.2:c.1605G>A | NP_001344250.1:p.Trp535Ter |