Linked Data
dbSNP Id:
rs2115763
gnomAD v2:
11-112051169-A-T
gnomAD v3:
11-112180446-A-T
gnomAD v4:
11-112180446-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112180446A>T , CM000673.2:g.112180446A>T | GRCh38 |
| NC_000011.9:g.112051169A>T , CM000673.1:g.112051169A>T | GRCh37 |
| NC_000011.8:g.111556379A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357685.11:c.293+964A>T MANE Select | ENSP00000350314.5:n.293+964A>T | |
| ENST00000357685.9:c.293+964A>T | ENSP00000350314.5:n.293+964A>T | |
| ENST00000361053.8:c.293+964A>T | ENSP00000354338.4:n.293+964A>T | |
| ENST00000438022.5:c.191+964A>T | ENSP00000414843.1:n.191+964A>T | |
| ENST00000460924.6:n.385+964A>T | ||
| ENST00000494860.5:n.145+4757A>T | ||
| ENST00000525468.1:n.282+9916A>T | ||
| ENST00000525987.5:n.636+964A>T | ||
| ENST00000526088.5:c.191+964A>T | ENSP00000436615.1:n.191+964A>T | |
| ENST00000527939.1:c.88+4757A>T | ENSP00000436956.1:n.88+4757A>T | |
| ENST00000531003.1:c.*83+877A>T | ENSP00000435869.1:n.*83+877A>T | |
| ENST00000531169.5:c.191+964A>T | ENSP00000437053.1:n.191+964A>T | |
| ENST00000532593.5:c.-23+3988A>T | ENSP00000431802.1:n.-23+3988A>T | |
| ENST00000532612.5:c.223+964A>T | ||
| ENST00000532699.1:c.*55+9772A>T | ENSP00000456434.1:n.*55+9772A>T | |
| ENST00000534122.5:n.908+964A>T | ||
| ENST00000534550.5:c.88+4757A>T | ENSP00000434488.1:n.88+4757A>T | |
| NM_001037290.2:c.191+964A>T | NP_001032367.2:n.191+964A>T | |
| NM_001256397.1:c.191+964A>T | NP_001243326.1:n.191+964A>T | |
| NM_001256398.1:c.293+964A>T | NP_001243327.1:n.293+964A>T | |
| NM_001256400.1:c.-23+3988A>T | NP_001243329.1:n.-23+3988A>T | |
| NM_031938.5:c.293+964A>T | NP_114144.4:n.293+964A>T | |
| NM_001037290.3:c.191+964A>T | NP_001032367.3:n.191+964A>T | |
| NM_001256397.2:c.191+964A>T | NP_001243326.2:n.191+964A>T | |
| NM_001256398.2:c.293+964A>T | NP_001243327.2:n.293+964A>T | |
| NM_001256400.2:c.-23+3988A>T | NP_001243329.2:n.-23+3988A>T | |
| NM_031938.7:c.293+964A>T MANE Select | NP_114144.5:n.293+964A>T | |
| NM_001037290.4:c.191+964A>T | NP_001032367.3:n.191+964A>T | |
| NM_001256397.3:c.191+964A>T | NP_001243326.2:n.191+964A>T | |
| NM_001256398.3:c.293+964A>T | NP_001243327.2:n.293+964A>T | |
| NM_001256400.3:c.-23+3988A>T | NP_001243329.2:n.-23+3988A>T |