Linked Data
dbSNP Id:
rs1878451199
gnomAD v4:
12-115997049-C-T
MyVariant Identifiers:
chr12:g.116434854C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115997049C>T , CM000674.2:g.115997049C>T | GRCh38 |
| NC_000012.11:g.116434854C>T , CM000674.1:g.116434854C>T | GRCh37 |
| NC_000012.10:g.114919237C>T | NCBI36 |
| NG_023366.1:g.285138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2751G>A MANE Select | ENSP00000281928.3:p.Val917= | |
| ENST00000548743.2:c.2721G>A | ENSP00000448553.2:p.Val907= | |
| ENST00000549786.2:c.2179G>A | ||
| ENST00000647927.1:n.3124G>A | ||
| ENST00000648173.1:n.1546G>A | ||
| ENST00000648379.1:n.1119G>A | ||
| ENST00000648737.1:n.2515G>A | ||
| ENST00000648916.1:n.762G>A | ||
| ENST00000649607.1:c.935G>A | ||
| ENST00000650226.1:c.2751G>A | ENSP00000496981.1:p.Val917= | |
| ENST00000281928.7:c.2751G>A | ENSP00000281928.3:p.Val917= | |
| NM_015335.4:c.2751G>A | NP_056150.1:p.Val917= | |
| XM_011538080.1:c.2751G>A | XP_011536382.1:p.Val917= | |
| XM_011538081.1:c.2748G>A | XP_011536383.1:p.Val916= | |
| XM_011538082.1:c.2721G>A | XP_011536384.1:p.Val907= | |
| XM_011538080.2:c.2751G>A | XP_011536382.1:p.Val917= | |
| XM_011538081.2:c.2748G>A | XP_011536383.1:p.Val916= | |
| XM_011538082.2:c.2721G>A | XP_011536384.1:p.Val907= | |
| XM_017019090.1:c.2748G>A | XP_016874579.1:p.Val916= | |
| NM_015335.5:c.2751G>A MANE Select | NP_056150.1:p.Val917= |