Linked Data
dbSNP Id:
rs761810056
ExAC:
4:80993695 G / A
gnomAD v2:
4-80993695-G-A
gnomAD v3:
4-80072541-G-A
gnomAD v4:
4-80072541-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80072541G>A , CM000666.2:g.80072541G>A | GRCh38 |
| NC_000004.11:g.80993695G>A , CM000666.1:g.80993695G>A | GRCh37 |
| NC_000004.10:g.81212719G>A | NCBI36 |
| NG_015987.1:g.5783C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403729.7:c.20C>T MANE Select | ENSP00000385575.2:p.Pro7Leu | |
| ENST00000679571.1:c.-80+168C>T | ENSP00000506307.1:n.-80+168C>T | |
| ENST00000680913.1:c.20C>T | ENSP00000505640.1:p.Pro7Leu | |
| ENST00000681115.1:c.20C>T | ENSP00000505618.1:p.Pro7Leu | |
| ENST00000681710.1:c.-80+168C>T | ENSP00000505865.1:n.-80+168C>T | |
| ENST00000307333.7:c.20C>T | ENSP00000306185.6:p.Pro7Leu | |
| ENST00000346652.10:c.20C>T | ENSP00000314883.6:p.Pro7Leu | |
| ENST00000403729.6:c.20C>T | ENSP00000385575.2:p.Pro7Leu | |
| ENST00000404191.5:c.-80+854C>T | ENSP00000384028.1:n.-80+854C>T | |
| ENST00000506286.1:n.630-887C>T | ||
| ENST00000514959.1:n.248+6812C>T | ||
| NM_001145794.1:c.20C>T | NP_001139266.1:p.Pro7Leu | |
| NM_001286780.1:c.-80+854C>T | NP_001273709.1:n.-80+854C>T | |
| NM_001286781.1:c.-80+168C>T | NP_001273710.1:n.-80+168C>T | |
| NM_058172.5:c.20C>T | NP_477520.2:p.Pro7Leu | |
| XM_011531587.1:c.-80+854C>T | XP_011529889.1:n.-80+854C>T | |
| XM_011531587.3:c.-80+854C>T | XP_011529889.1:n.-80+854C>T | |
| NM_058172.6:c.20C>T MANE Select | NP_477520.2:p.Pro7Leu | |
| NM_001286780.2:c.-80+854C>T | NP_001273709.1:n.-80+854C>T | |
| NM_001286781.2:c.-80+168C>T | NP_001273710.1:n.-80+168C>T | |
| NM_001145794.2:c.20C>T | NP_001139266.1:p.Pro7Leu |