Linked Data
dbSNP Id:
rs776037494
ExAC:
19:41518328 C / A
gnomAD v2:
19-41518328-C-A
gnomAD v4:
19-41012423-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012423C>A , CM000681.2:g.41012423C>A | GRCh38 |
| NC_000019.9:g.41518328C>A , CM000681.1:g.41518328C>A | GRCh37 |
| NC_000019.8:g.46210168C>A | NCBI36 |
| NG_007929.1:g.26125C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1090C>A MANE Select | ENSP00000324648.2:p.Pro364Thr | |
| ENST00000598834.2:c.1114C>A | ||
| ENST00000324071.8:c.1090C>A | ENSP00000324648.2:p.Pro364Thr | |
| ENST00000593831.1:c.382C>A | ENSP00000470582.1:p.Pro128Thr | |
| ENST00000597612.1:n.585C>A | ||
| NM_000767.4:c.1090C>A | NP_000758.1:p.Pro364Thr | |
| XM_005258569.3:c.1090C>A | XP_005258626.1:p.Pro364Thr | |
| XM_006723050.2:c.1090C>A | XP_006723113.1:p.Pro364Thr | |
| XM_011526546.1:c.1090C>A | XP_011524848.1:p.Pro364Thr | |
| XM_011526547.1:c.1090C>A | XP_011524849.1:p.Pro364Thr | |
| XM_011526548.1:c.610C>A | XP_011524850.1:p.Pro204Thr | |
| XM_011526549.1:c.499C>A | XP_011524851.1:p.Pro167Thr | |
| XM_011526550.1:c.490C>A | XP_011524852.1:p.Pro164Thr | |
| NM_000767.5:c.1090C>A MANE Select | NP_000758.1:p.Pro364Thr |