Linked Data
dbSNP Id:
rs1238431197
gnomAD v2:
11-62445994-T-A
gnomAD v3:
11-62678522-T-A
gnomAD v4:
11-62678522-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62678522T>A , CM000673.2:g.62678522T>A | GRCh38 |
| NC_000011.9:g.62445994T>A , CM000673.1:g.62445994T>A | GRCh37 |
| NC_000011.8:g.62202570T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301935.10:c.193A>T MANE Select | ENSP00000303991.5:p.Thr65Ser | |
| ENST00000294119.6:c.193A>T | ENSP00000294119.2:p.Thr65Ser | |
| ENST00000301935.9:c.193A>T | ENSP00000303991.5:p.Thr65Ser | |
| ENST00000436354.2:n.365A>T | ||
| ENST00000524762.5:n.350A>T | ||
| ENST00000525004.5:n.16A>T | ||
| ENST00000525717.5:n.337A>T | ||
| ENST00000526919.5:n.280A>T | ||
| ENST00000527421.5:n.456A>T | ||
| ENST00000528907.5:n.343A>T | ||
| ENST00000529640.5:c.193A>T | ENSP00000435964.1:p.Thr65Ser | |
| ENST00000531056.5:n.347A>T | ||
| ENST00000531625.1:n.464A>T | ||
| ENST00000532904.5:n.449A>T | ||
| ENST00000533476.5:n.464A>T | ||
| ENST00000533908.5:n.328A>T | ||
| ENST00000534176.1:c.193A>T | ENSP00000435625.1:p.Thr65Ser | |
| ENST00000616865.4:c.113+168A>T | ENSP00000478250.1:n.113+168A>T | |
| NM_001286077.1:c.193A>T | NP_001273006.1:p.Thr65Ser | |
| NM_001286078.1:c.113+168A>T | NP_001273007.1:n.113+168A>T | |
| NM_015853.4:c.193A>T | NP_056937.2:p.Thr65Ser | |
| XM_005274033.3:c.193A>T | XP_005274090.1:p.Thr65Ser | |
| XM_011545090.1:c.193A>T | XP_011543392.1:p.Thr65Ser | |
| XM_005274033.4:c.193A>T | XP_005274090.1:p.Thr65Ser | |
| XM_017017874.1:c.193A>T | XP_016873363.1:p.Thr65Ser | |
| NM_001286077.2:c.193A>T MANE Select | NP_001273006.1:p.Thr65Ser | |
| NM_015853.5:c.193A>T | NP_056937.2:p.Thr65Ser | |
| NM_001286078.2:c.113+168A>T | NP_001273007.1:n.113+168A>T |