Linked Data
dbSNP Id:
rs2305957
gnomAD v2:
4-128732926-A-G
gnomAD v3:
4-127811771-A-G
gnomAD v4:
4-127811771-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127811771A>G , CM000666.2:g.127811771A>G | GRCh38 |
| NC_000004.11:g.128732926A>G , CM000666.1:g.128732926A>G | GRCh37 |
| NC_000004.10:g.128952376A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296464.9:c.1578+135A>G MANE Select | ENSP00000296464.3:n.1578+135A>G | |
| ENST00000296464.8:c.1578+135A>G | ENSP00000296464.3:n.1578+135A>G | |
| ENST00000505726.1:c.1500+135A>G | ENSP00000425645.1:n.1500+135A>G | |
| ENST00000508549.5:c.1455+135A>G | ENSP00000427305.1:n.1455+135A>G | |
| ENST00000508776.5:c.1578+135A>G | ENSP00000422482.1:n.1578+135A>G | |
| NM_014278.2:c.1578+135A>G | NP_055093.2:n.1578+135A>G | |
| XM_011531744.1:c.1500+135A>G | XP_011530046.1:n.1500+135A>G | |
| NM_001317381.1:c.1671+135A>G | NP_001304310.1:n.1671+135A>G | |
| NM_001317382.1:c.1500+135A>G | NP_001304311.1:n.1500+135A>G | |
| NM_001317383.1:c.1455+135A>G | NP_001304312.1:n.1455+135A>G | |
| NM_014278.3:c.1578+135A>G | NP_055093.2:n.1578+135A>G | |
| NM_014278.4:c.1578+135A>G MANE Select | NP_055093.2:n.1578+135A>G | |
| NM_001317381.2:c.1671+135A>G | NP_001304310.1:n.1671+135A>G | |
| NM_001317383.2:c.1455+135A>G | NP_001304312.1:n.1455+135A>G | |
| NM_001317382.2:c.1500+135A>G | NP_001304311.1:n.1500+135A>G |