Linked Data
dbSNP Id:
rs774825506
ExAC:
19:41515286 C / A
gnomAD v2:
19-41515286-C-A
gnomAD v3:
19-41009381-C-A
gnomAD v4:
19-41009381-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41009381C>A , CM000681.2:g.41009381C>A | GRCh38 |
| NC_000019.9:g.41515286C>A , CM000681.1:g.41515286C>A | GRCh37 |
| NC_000019.8:g.46207126C>A | NCBI36 |
| NG_007929.1:g.23083C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.808C>A MANE Select | ENSP00000324648.2:p.Leu270Ile | |
| ENST00000598834.2:c.832C>A | ||
| ENST00000324071.8:c.808C>A | ENSP00000324648.2:p.Leu270Ile | |
| ENST00000593831.1:c.257-2917C>A | ENSP00000470582.1:n.257-2917C>A | |
| NM_000767.4:c.808C>A | NP_000758.1:p.Leu270Ile | |
| XM_005258569.3:c.808C>A | XP_005258626.1:p.Leu270Ile | |
| XM_006723050.2:c.808C>A | XP_006723113.1:p.Leu270Ile | |
| XM_011526546.1:c.808C>A | XP_011524848.1:p.Leu270Ile | |
| XM_011526547.1:c.808C>A | XP_011524849.1:p.Leu270Ile | |
| XM_011526548.1:c.485-2917C>A | XP_011524850.1:n.485-2917C>A | |
| XM_011526549.1:c.217C>A | XP_011524851.1:p.Leu73Ile | |
| XM_011526550.1:c.365-2917C>A | XP_011524852.1:n.365-2917C>A | |
| NM_000767.5:c.808C>A MANE Select | NP_000758.1:p.Leu270Ile |