Linked Data
dbSNP Id:
rs193922918
gnomAD v2:
19-41518645-G-A
gnomAD v3:
19-41012740-G-A
gnomAD v4:
19-41012740-G-A
COSMIC:
COSM996891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012740G>A , CM000681.2:g.41012740G>A | GRCh38 |
| NC_000019.9:g.41518645G>A , CM000681.1:g.41518645G>A | GRCh37 |
| NC_000019.8:g.46210485G>A | NCBI36 |
| NG_007929.1:g.26442G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1219G>A MANE Select | ENSP00000324648.2:p.Ala407Thr | |
| ENST00000598834.2:c.1177-233G>A | ||
| ENST00000324071.8:c.1219G>A | ENSP00000324648.2:p.Ala407Thr | |
| ENST00000593831.1:c.511G>A | ENSP00000470582.1:p.Ala171Thr | |
| ENST00000597612.1:n.647+255G>A | ||
| NM_000767.4:c.1219G>A | NP_000758.1:p.Ala407Thr | |
| XM_005258569.3:c.1152+255G>A | XP_005258626.1:n.1152+255G>A | |
| XM_006723050.2:c.1219G>A | XP_006723113.1:p.Ala407Thr | |
| XM_011526546.1:c.1153-76G>A | XP_011524848.1:n.1153-76G>A | |
| XM_011526547.1:c.1153-233G>A | XP_011524849.1:n.1153-233G>A | |
| XM_011526548.1:c.739G>A | XP_011524850.1:p.Ala247Thr | |
| XM_011526549.1:c.628G>A | XP_011524851.1:p.Ala210Thr | |
| XM_011526550.1:c.619G>A | XP_011524852.1:p.Ala207Thr | |
| NM_000767.5:c.1219G>A MANE Select | NP_000758.1:p.Ala407Thr |