Linked Data
dbSNP Id:
rs771803515
ExAC:
4:79786702 C / T
gnomAD v2:
4-79786702-C-T
gnomAD v3:
4-78865548-C-T
gnomAD v4:
4-78865548-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78865548C>T , CM000666.2:g.78865548C>T | GRCh38 |
| NC_000004.11:g.79786702C>T , CM000666.1:g.79786702C>T | GRCh37 |
| NC_000004.10:g.80005726C>T | NCBI36 |
| NG_047162.1:g.94171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.1068-9C>T MANE Select | ENSP00000424668.2:n.1068-9C>T | |
| ENST00000335016.9:c.1068-9C>T | ENSP00000334836.5:n.1068-9C>T | |
| ENST00000389010.7:c.*44-9C>T | ENSP00000373662.3:n.*44-9C>T | |
| ENST00000502613.1:c.145-9C>T | ||
| ENST00000502871.5:c.1068-9C>T | ENSP00000421768.1:n.1068-9C>T | |
| ENST00000505725.1:n.350-9C>T | ||
| ENST00000628286.1:c.*44-9C>T | ENSP00000487317.1:n.*44-9C>T | |
| NM_017593.3:c.1068-9C>T | NP_060063.2:n.1068-9C>T | |
| NM_198892.1:c.1068-9C>T | NP_942595.1:n.1068-9C>T | |
| XM_005263117.1:c.1068-9C>T | XP_005263174.1:n.1068-9C>T | |
| XM_011532101.1:c.828-9C>T | XP_011530403.1:n.828-9C>T | |
| XM_011532102.1:c.1068-9C>T | XP_011530404.1:n.1068-9C>T | |
| XM_017008381.1:c.828-9C>T | XP_016863870.1:n.828-9C>T | |
| XM_017008382.1:c.180-9C>T | XP_016863871.1:n.180-9C>T | |
| NM_017593.4:c.1068-9C>T | NP_060063.2:n.1068-9C>T | |
| NM_017593.5:c.1068-9C>T | NP_060063.2:n.1068-9C>T | |
| NM_198892.2:c.1068-9C>T MANE Select | NP_942595.1:n.1068-9C>T |