Linked Data
ClinVar Variation Id:
519447
dbSNP Id:
rs149488365
gnomAD v2:
1-112524835-C-T
gnomAD v3:
1-111982213-C-T
gnomAD v4:
1-111982213-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111982213C>T , CM000663.2:g.111982213C>T | GRCh38 |
| NC_000001.10:g.112524835C>T , CM000663.1:g.112524835C>T | GRCh37 |
| NC_000001.9:g.112326358C>T | NCBI36 |
| NG_032011.2:g.11943G>A , LRG_445:g.11943G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703641.1:n.1013G>A | ||
| ENST00000703642.1:n.819G>A | ||
| ENST00000703643.1:n.816G>A | ||
| ENST00000302127.5:c.514G>A MANE Select | ENSP00000306923.4:p.Ala172Thr | |
| ENST00000302127.4:c.514G>A | ENSP00000306923.3:p.Ala172Thr | |
| ENST00000315987.6:c.514G>A | ENSP00000319591.2:p.Ala172Thr | |
| ENST00000369697.5:c.514G>A | ENSP00000358711.1:p.Ala172Thr | |
| NM_004980.4:c.514G>A , LRG_445t1:c.514G>A | NP_004971.2:p.Ala172Thr | |
| NM_172198.2:c.514G>A | NP_751948.1:p.Ala172Thr | |
| XM_005270851.3:c.514G>A | XP_005270908.1:p.Ala172Thr | |
| XM_006710629.2:c.514G>A | XP_006710692.1:p.Ala172Thr | |
| XM_006710630.2:c.514G>A | XP_006710693.1:p.Ala172Thr | |
| XM_006710631.2:c.514G>A | XP_006710694.1:p.Ala172Thr | |
| XM_006710632.2:c.514G>A | XP_006710695.1:p.Ala172Thr | |
| XM_011541425.1:c.514G>A | XP_011539727.1:p.Ala172Thr | |
| XM_011541426.1:c.514G>A | XP_011539728.1:p.Ala172Thr | |
| XM_011541427.1:c.514G>A | XP_011539729.1:p.Ala172Thr | |
| XM_011541428.1:c.514G>A | XP_011539730.1:p.Ala172Thr | |
| XM_005270851.4:c.514G>A | XP_005270908.1:p.Ala172Thr | |
| XM_006710629.4:c.514G>A | XP_006710692.1:p.Ala172Thr | |
| XM_006710630.3:c.514G>A | XP_006710693.1:p.Ala172Thr | |
| XM_006710631.3:c.514G>A | XP_006710694.1:p.Ala172Thr | |
| XM_006710632.3:c.514G>A | XP_006710695.1:p.Ala172Thr | |
| XM_011541425.3:c.514G>A | XP_011539727.1:p.Ala172Thr | |
| XM_011541426.2:c.514G>A | XP_011539728.1:p.Ala172Thr | |
| XM_011541427.3:c.514G>A | XP_011539729.1:p.Ala172Thr | |
| XM_011541428.2:c.514G>A | XP_011539730.1:p.Ala172Thr | |
| XM_017001244.2:c.514G>A | XP_016856733.1:p.Ala172Thr | |
| XM_017001245.2:c.514G>A | XP_016856734.1:p.Ala172Thr | |
| NM_001378969.1:c.514G>A MANE Select | NP_001365898.1:p.Ala172Thr | |
| NM_001378970.1:c.514G>A | NP_001365899.1:p.Ala172Thr | |
| NM_004980.5:c.514G>A | NP_004971.2:p.Ala172Thr | |
| NM_172198.3:c.514G>A | NP_751948.1:p.Ala172Thr |