Linked Data
dbSNP Id:
rs1000900482
gnomAD v2:
9-130576100-C-T
gnomAD v3:
9-127813821-C-T
gnomAD v4:
9-127813821-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127813821C>T , CM000671.2:g.127813821C>T | GRCh38 |
| NC_000009.11:g.130576100C>T , CM000671.1:g.130576100C>T | GRCh37 |
| NC_000009.10:g.129615921C>T | NCBI36 |
| NG_009551.1:g.45948G>A , LRG_589:g.45948G>A | |
| NG_023245.1:g.15947C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373247.7:c.*217C>T MANE Select | ENSP00000362344.2:n.*217C>T | |
| ENST00000373225.7:c.*217C>T | ENSP00000362322.3:n.*217C>T | |
| ENST00000373247.6:c.*217C>T | ENSP00000362344.2:n.*217C>T | |
| ENST00000393706.6:c.*217C>T | ENSP00000377309.2:n.*217C>T | |
| ENST00000460181.5:n.1969C>T | ||
| ENST00000467826.5:n.710-387C>T | ||
| ENST00000630236.2:c.*705C>T | ENSP00000486766.1:n.*705C>T | |
| NM_001018078.2:c.*217C>T | NP_001018088.1:n.*217C>T | |
| NM_001288803.1:c.*217C>T | NP_001275732.1:n.*217C>T | |
| NM_004957.5:c.*217C>T | NP_004948.4:n.*217C>T | |
| NR_110170.1:n.2029C>T | ||
| XM_005251864.2:c.1484-387C>T | XP_005251921.1:n.1484-387C>T | |
| XM_011518437.1:c.*217C>T | XP_011516739.1:n.*217C>T | |
| XM_011518438.1:c.*217C>T | XP_011516740.1:n.*217C>T | |
| XM_011518439.1:c.*217C>T | XP_011516741.1:n.*217C>T | |
| XR_242581.2:n.1878C>T | ||
| XR_242582.2:n.1381-387C>T | ||
| XM_005251864.4:c.1484-387C>T | XP_005251921.1:n.1484-387C>T | |
| XM_011518439.2:c.*217C>T | XP_011516741.1:n.*217C>T | |
| XM_017014565.2:c.1334-387C>T | XP_016870054.1:n.1334-387C>T | |
| XM_017014566.1:c.*217C>T | XP_016870055.1:n.*217C>T | |
| XR_242581.4:n.1876C>T | ||
| XR_242582.4:n.1379-387C>T | ||
| NM_004957.6:c.*217C>T MANE Select | NP_004948.4:n.*217C>T |