Linked Data
ClinVar Variation Id:
1507127
ClinVar RCV Id:
RCV002009333
dbSNP Id:
rs766827255
ExAC:
16:77317962 G / A
gnomAD v2:
16-77317962-G-A
gnomAD v4:
16-77284065-G-A
COSMIC:
COSM3512480
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77284065G>A , CM000678.2:g.77284065G>A | GRCh38 |
| NC_000016.9:g.77317962G>A , CM000678.1:g.77317962G>A | GRCh37 |
| NC_000016.8:g.75875463G>A | NCBI36 |
| NG_031879.1:g.156050C>T | |
| NG_031879.2:g.156050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282849.10:c.3557C>T MANE Select | ENSP00000282849.5:p.Pro1186Leu | |
| ENST00000282849.9:c.3557C>T | ENSP00000282849.5:p.Pro1186Leu | |
| ENST00000562332.1:c.96+5199C>T | ||
| NM_199355.2:c.3557C>T | NP_955387.1:p.Pro1186Leu | |
| XM_006721158.2:c.1469C>T | XP_006721221.1:p.Pro490Leu | |
| XM_011522923.1:c.3041C>T | XP_011521225.1:p.Pro1014Leu | |
| XM_011522924.1:c.2828C>T | XP_011521226.1:p.Pro943Leu | |
| NM_001326358.1:c.3041C>T | NP_001313287.1:p.Pro1014Leu | |
| NM_199355.3:c.3557C>T | NP_955387.1:p.Pro1186Leu | |
| XM_011522924.2:c.2828C>T | XP_011521226.1:p.Pro943Leu | |
| XM_017022988.2:c.2321C>T | XP_016878477.1:p.Pro774Leu | |
| XM_017022989.1:c.2321C>T | XP_016878478.1:p.Pro774Leu | |
| NM_199355.4:c.3557C>T MANE Select | NP_955387.1:p.Pro1186Leu | |
| NM_001326358.2:c.3041C>T | NP_001313287.1:p.Pro1014Leu |