Linked Data
dbSNP Id:
rs775156739
ExAC:
16:30748718 G / C
gnomAD v2:
16-30748718-G-C
gnomAD v4:
16-30737397-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30737397G>C , CM000678.2:g.30737397G>C | GRCh38 |
| NC_000016.9:g.30748718G>C , CM000678.1:g.30748718G>C | GRCh37 |
| NC_000016.8:g.30656219G>C | NCBI36 |
| NG_032135.1:g.43257G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.7357G>C | ENSP00000405186.3:p.Ala2453Pro | |
| ENST00000704023.1:c.1593+44G>C | ||
| ENST00000706321.1:c.7357G>C | ENSP00000516346.1:p.Ala2453Pro | |
| ENST00000262518.9:c.7357G>C MANE Select | ENSP00000262518.4:p.Ala2453Pro | |
| ENST00000262518.8:c.7357G>C | ENSP00000262518.4:p.Ala2453Pro | |
| ENST00000380361.7:c.6826G>C | ENSP00000369719.3:p.Ala2276Pro | |
| ENST00000395059.6:c.6580G>C | ENSP00000378499.3:p.Ala2194Pro | |
| NM_006662.2:c.7357G>C | NP_006653.2:p.Ala2453Pro | |
| NM_006662.3:c.7357G>C MANE Select | NP_006653.2:p.Ala2453Pro |