Linked Data
ClinVar Variation Id:
1569911
ClinVar RCV Id:
RCV002221038
dbSNP Id:
rs755520570
ExAC:
12:102224448 C / T
gnomAD v2:
12-102224448-C-T
gnomAD v3:
12-101830670-C-T
gnomAD v4:
12-101830670-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830670C>T , CM000674.2:g.101830670C>T | GRCh38 |
| NC_000012.11:g.102224448C>T , CM000674.1:g.102224448C>T | GRCh37 |
| NC_000012.10:g.100748579C>T | NCBI36 |
| NG_021243.1:g.5198G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.6G>A MANE Select | ENSP00000299314.7:p.Leu2= | |
| ENST00000299314.11:c.6G>A | ENSP00000299314.7:p.Leu2= | |
| ENST00000392919.4:c.6G>A | ENSP00000376651.4:p.Leu2= | |
| ENST00000549165.1:c.6G>A | ENSP00000450413.1:p.Leu2= | |
| ENST00000549940.5:c.6G>A | ENSP00000449150.1:p.Leu2= | |
| NM_024312.4:c.6G>A | NP_077288.2:p.Leu2= | |
| XM_006719593.2:c.6G>A | XP_006719656.1:p.Leu2= | |
| XM_006719593.3:c.6G>A | XP_006719656.1:p.Leu2= | |
| XM_017019961.1:c.-144G>A | XP_016875450.1:n.-144G>A | |
| XM_017019962.2:c.-1345G>A | XP_016875451.1:n.-1345G>A | |
| NM_024312.5:c.6G>A MANE Select | NP_077288.2:p.Leu2= |