Linked Data
ClinVar Variation Id:
653376
ClinVar RCV Id:
RCV000809143
dbSNP Id:
rs1186946412
gnomAD v2:
8-145737299-C-T
gnomAD v4:
8-144511916-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144511916C>T , CM000670.2:g.144511916C>T | GRCh38 |
| NC_000008.10:g.145737299C>T , CM000670.1:g.145737299C>T | GRCh37 |
| NC_000008.9:g.145708107C>T | NCBI36 |
| NG_016430.1:g.10911G>A | |
| NG_016430.2:g.10911G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.3388G>A MANE Select | ENSP00000482313.2:p.Ala1130Thr | |
| ENST00000301323.7:c.405G>A | ||
| ENST00000529424.2:n.50-127G>A | ||
| ENST00000531875.2:c.634G>A | ENSP00000477910.1:p.Ala212Thr | |
| ENST00000617875.4:c.3388G>A | ENSP00000482313.1:p.Ala1130Thr | |
| ENST00000621189.4:c.2317G>A | ENSP00000483145.1:p.Ala773Thr | |
| NM_004260.3:c.3388G>A | NP_004251.3:p.Ala1130Thr | |
| XM_011517380.1:c.3463G>A | XP_011515682.1:p.Ala1155Thr | |
| XM_011517381.1:c.3367G>A | XP_011515683.1:p.Ala1123Thr | |
| XM_011517382.1:c.3271G>A | XP_011515684.1:p.Ala1091Thr | |
| XM_011517383.1:c.3265G>A | XP_011515685.1:p.Ala1089Thr | |
| XM_011517384.1:c.3190G>A | XP_011515686.1:p.Ala1064Thr | |
| XM_011517385.1:c.2326G>A | XP_011515687.1:p.Ala776Thr | |
| XR_928366.1:n.3353-127G>A | ||
| XR_928367.1:n.3443G>A | ||
| XR_928368.1:n.3336G>A | ||
| XM_011517384.3:c.3190G>A | XP_011515686.1:p.Ala1064Thr | |
| XM_017013991.2:c.3553G>A | XP_016869480.1:p.Ala1185Thr | |
| XM_017013992.2:c.3478G>A | XP_016869481.1:p.Ala1160Thr | |
| XM_017013993.2:c.3463G>A | XP_016869482.1:p.Ala1155Thr | |
| XM_017013994.2:c.3457G>A | XP_016869483.1:p.Ala1153Thr | |
| XM_017013995.2:c.3388G>A | XP_016869484.1:p.Ala1130Thr | |
| XM_017013996.2:c.3553G>A | XP_016869485.1:p.Ala1185Thr | |
| XM_017013997.2:c.3355G>A | XP_016869486.1:p.Ala1119Thr | |
| XM_017013998.1:c.3478G>A | XP_016869487.1:p.Ala1160Thr | |
| XM_017013999.2:c.3265G>A | XP_016869488.1:p.Ala1089Thr | |
| XM_017014000.1:c.2416G>A | XP_016869489.1:p.Ala806Thr | |
| XM_017014001.2:c.2326G>A | XP_016869490.1:p.Ala776Thr | |
| XR_001745626.2:n.3439-127G>A | ||
| XR_001745627.2:n.3529G>A | ||
| XR_001745628.2:n.3420G>A | ||
| XR_001745629.2:n.3283G>A | ||
| XR_001745630.2:n.3085G>A | ||
| NM_004260.4:c.3388G>A MANE Select | NP_004251.4:p.Ala1130Thr |