Linked Data
dbSNP Id:
rs151123532
ExAC:
11:102713433 G / A
gnomAD v2:
11-102713433-G-A
gnomAD v3:
11-102842702-G-A
gnomAD v4:
11-102842702-G-A
COSMIC:
COSM3397361
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842702G>A , CM000673.2:g.102842702G>A | GRCh38 |
| NC_000011.9:g.102713433G>A , CM000673.1:g.102713433G>A | GRCh37 |
| NC_000011.8:g.102218643G>A | NCBI36 |
| NG_012100.1:g.5910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.320C>T MANE Select | ENSP00000299855.5:p.Pro107Leu | |
| ENST00000299855.9:c.320C>T | ENSP00000299855.5:p.Pro107Leu | |
| ENST00000524478.1:c.*162C>T | ENSP00000435255.1:n.*162C>T | |
| NM_002422.3:c.320C>T | NP_002413.1:p.Pro107Leu | |
| NM_002422.4:c.320C>T | NP_002413.1:p.Pro107Leu | |
| NM_002422.5:c.320C>T MANE Select | NP_002413.1:p.Pro107Leu |