Linked Data
ClinVar Variation Id:
337064
dbSNP Id:
rs567051449
ExAC:
2:74588569 G / A
gnomAD v2:
2-74588569-G-A
gnomAD v3:
2-74361442-G-A
gnomAD v4:
2-74361442-G-A
COSMIC:
COSN7082961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74361442G>A , CM000664.2:g.74361442G>A | GRCh38 |
| NC_000002.11:g.74588569G>A , CM000664.1:g.74588569G>A | GRCh37 |
| NC_000002.10:g.74442077G>A | NCBI36 |
| NG_008735.2:g.35646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.*57C>T | ENSP00000354791.4:n.*57C>T | |
| ENST00000628224.3:c.*57C>T MANE Select | ENSP00000487279.2:n.*57C>T | |
| ENST00000680606.1:c.*57C>T | ENSP00000505612.1:n.*57C>T | |
| ENST00000361874.7:c.*57C>T | ENSP00000354791.3:n.*57C>T | |
| ENST00000394003.7:c.*57C>T | ENSP00000377571.3:n.*57C>T | |
| ENST00000409240.5:c.*57C>T | ENSP00000386406.1:n.*57C>T | |
| ENST00000409438.5:c.*57C>T | ENSP00000387270.1:n.*57C>T | |
| ENST00000409868.5:c.*57C>T | ENSP00000387327.1:n.*57C>T | |
| ENST00000434055.5:c.*1178C>T | ENSP00000416711.1:n.*1178C>T | |
| ENST00000451608.2:c.633C>T | ENSP00000416453.2:n.633C>T | |
| ENST00000466110.5:n.5131C>T | ||
| ENST00000491465.5:n.2157C>T | ||
| ENST00000497666.1:n.192C>T | ||
| ENST00000628224.2:c.*57C>T | ENSP00000487279.1:n.*57C>T | |
| ENST00000633691.1:c.*57C>T | ENSP00000487724.1:n.*57C>T | |
| NM_001135040.2:c.*57C>T | NP_001128512.1:n.*57C>T | |
| NM_001135041.2:c.*57C>T | NP_001128513.1:n.*57C>T | |
| NM_001190836.1:c.*57C>T | NP_001177765.1:n.*57C>T | |
| NM_001190837.1:c.*57C>T | NP_001177766.1:n.*57C>T | |
| NM_004082.4:c.*57C>T | NP_004073.2:n.*57C>T | |
| NM_023019.3:c.*57C>T | NP_075408.1:n.*57C>T | |
| NR_033935.1:n.4163C>T | ||
| NM_001135040.3:c.*57C>T | NP_001128512.1:n.*57C>T | |
| NM_001135041.3:c.*57C>T | NP_001128513.1:n.*57C>T | |
| NM_001190836.2:c.*57C>T | NP_001177765.1:n.*57C>T | |
| NM_001190837.2:c.*57C>T | NP_001177766.1:n.*57C>T | |
| NM_001378991.1:c.*57C>T | NP_001365920.1:n.*57C>T | |
| NM_001378992.1:c.*57C>T | NP_001365921.1:n.*57C>T | |
| NM_004082.5:c.*57C>T MANE Select | NP_004073.2:n.*57C>T | |
| NM_023019.4:c.*57C>T | NP_075408.1:n.*57C>T | |
| NR_033935.2:n.3942C>T |