Linked Data
dbSNP Id:
rs748122126
ExAC:
2:44102400 T / A
gnomAD v2:
2-44102400-T-A
gnomAD v3:
2-43875261-T-A
gnomAD v4:
2-43875261-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875261T>A , CM000664.2:g.43875261T>A | GRCh38 |
| NC_000002.11:g.44102400T>A , CM000664.1:g.44102400T>A | GRCh37 |
| NC_000002.10:g.43955904T>A | NCBI36 |
| NG_008884.1:g.41298T>A | |
| NG_008884.2:g.48320T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1604T>A MANE Select | ENSP00000272286.2:p.Val535Glu | |
| ENST00000272286.2:c.1604T>A | ENSP00000272286.2:p.Val535Glu | |
| NM_022437.2:c.1604T>A | NP_071882.1:p.Val535Glu | |
| XM_005264483.2:c.1601T>A | XP_005264540.1:p.Val534Glu | |
| XM_011533029.1:c.1616T>A | XP_011531331.1:p.Val539Glu | |
| XM_011533030.1:c.1613T>A | XP_011531332.1:p.Val538Glu | |
| XM_011533031.1:c.1388T>A | XP_011531333.1:p.Val463Glu | |
| XR_939707.1:n.2106T>A | ||
| NM_001357321.1:c.1601T>A | NP_001344250.1:p.Val534Glu | |
| XM_011533029.2:c.1616T>A | XP_011531331.1:p.Val539Glu | |
| XM_011533030.2:c.1613T>A | XP_011531332.1:p.Val538Glu | |
| XR_001738891.1:n.2120T>A | ||
| XR_939707.2:n.2120T>A | ||
| NM_022437.3:c.1604T>A MANE Select | NP_071882.1:p.Val535Glu | |
| NM_001357321.2:c.1601T>A | NP_001344250.1:p.Val534Glu |