Linked Data
dbSNP Id:
rs757970854
ExAC:
4:79786892 A / G
gnomAD v2:
4-79786892-A-G
gnomAD v4:
4-78865738-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78865738A>G , CM000666.2:g.78865738A>G | GRCh38 |
| NC_000004.11:g.79786892A>G , CM000666.1:g.79786892A>G | GRCh37 |
| NC_000004.10:g.80005916A>G | NCBI36 |
| NG_047162.1:g.94361A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.1231+18A>G MANE Select | ENSP00000424668.2:n.1231+18A>G | |
| ENST00000335016.9:c.1231+18A>G | ENSP00000334836.5:n.1231+18A>G | |
| ENST00000389010.7:c.*207+18A>G | ENSP00000373662.3:n.*207+18A>G | |
| ENST00000502613.1:c.308+18A>G | ||
| ENST00000502871.5:c.1231+18A>G | ENSP00000421768.1:n.1231+18A>G | |
| ENST00000505725.1:n.531A>G | ||
| ENST00000628286.1:c.*207+18A>G | ENSP00000487317.1:n.*207+18A>G | |
| NM_017593.3:c.1231+18A>G | NP_060063.2:n.1231+18A>G | |
| NM_198892.1:c.1231+18A>G | NP_942595.1:n.1231+18A>G | |
| XM_005263117.1:c.1231+18A>G | XP_005263174.1:n.1231+18A>G | |
| XM_011532101.1:c.991+18A>G | XP_011530403.1:n.991+18A>G | |
| XM_011532102.1:c.1231+18A>G | XP_011530404.1:n.1231+18A>G | |
| XM_017008381.1:c.991+18A>G | XP_016863870.1:n.991+18A>G | |
| XM_017008382.1:c.343+18A>G | XP_016863871.1:n.343+18A>G | |
| NM_017593.4:c.1231+18A>G | NP_060063.2:n.1231+18A>G | |
| NM_017593.5:c.1231+18A>G | NP_060063.2:n.1231+18A>G | |
| NM_198892.2:c.1231+18A>G MANE Select | NP_942595.1:n.1231+18A>G |