Linked Data
dbSNP Id:
rs757037281
ExAC:
6:31827730 G / A
gnomAD v2:
6-31827730-G-A
gnomAD v3:
6-31859953-G-A
gnomAD v4:
6-31859953-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859953G>A , CM000668.2:g.31859953G>A | GRCh38 |
| NC_000006.11:g.31827730G>A , CM000668.1:g.31827730G>A | GRCh37 |
| NC_000006.10:g.31935709G>A | NCBI36 |
| NG_008201.1:g.7980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.1022-8C>T MANE Select | ENSP00000364782.4:n.1022-8C>T | |
| ENST00000677054.1:n.2353C>T | ||
| ENST00000677512.1:n.1299-8C>T | ||
| ENST00000678869.1:n.1610-8C>T | ||
| ENST00000375631.4:c.1022-8C>T | ENSP00000364782.4:n.1022-8C>T | |
| ENST00000480384.1:n.1313C>T | ||
| ENST00000491768.5:c.*132-8C>T | ENSP00000433127.1:n.*132-8C>T | |
| ENST00000495807.1:n.2330-8C>T | ||
| NM_000434.3:c.1022-8C>T | NP_000425.1:n.1022-8C>T | |
| NM_000434.4:c.1022-8C>T MANE Select | NP_000425.1:n.1022-8C>T |