Linked Data
ClinVar Variation Id:
2956001
ClinVar RCV Id:
RCV003813737
dbSNP Id:
rs888406870
gnomAD v2:
6-15627725-G-C
gnomAD v4:
6-15627494-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15627494G>C , CM000668.2:g.15627494G>C | GRCh38 |
| NC_000006.11:g.15627725G>C , CM000668.1:g.15627725G>C | GRCh37 |
| NC_000006.10:g.15735704G>C | NCBI36 |
| NG_009309.1:g.40547C>G , LRG_588:g.40547C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344537.10:c.223-19C>G MANE Select | ENSP00000341680.6:n.223-19C>G | |
| ENST00000338950.9:c.223-19C>G | ENSP00000344718.5:n.223-19C>G | |
| ENST00000344537.9:c.223-19C>G | ENSP00000341680.5:n.223-19C>G | |
| ENST00000355917.7:c.172-19C>G | ENSP00000348183.4:n.172-19C>G | |
| ENST00000506844.1:c.*221-19C>G | ENSP00000424202.1:n.*221-19C>G | |
| ENST00000510395.5:c.*133-19C>G | ENSP00000424685.1:n.*133-19C>G | |
| ENST00000511762.2:c.118-19C>G | ENSP00000427473.2:n.118-19C>G | |
| ENST00000513680.5:c.*221-19C>G | ENSP00000424357.1:n.*221-19C>G | |
| ENST00000515875.5:c.172-19C>G | ENSP00000425495.1:n.172-19C>G | |
| ENST00000622898.4:c.118-19C>G | ENSP00000481997.1:n.118-19C>G | |
| NM_001271667.1:c.-21-19C>G | NP_001258596.1:n.-21-19C>G | |
| NM_001271668.1:c.172-19C>G | NP_001258597.1:n.172-19C>G | |
| NM_001271669.1:c.118-19C>G | NP_001258598.1:n.118-19C>G | |
| NM_032122.4:c.223-19C>G , LRG_588t1:c.223-19C>G | NP_115498.2:n.223-19C>G | |
| NM_183040.2:c.223-19C>G , LRG_588t2:c.223-19C>G | NP_898861.1:n.223-19C>G | |
| NR_036448.1:n.551-19C>G | ||
| XM_005249447.3:c.184-19C>G | XP_005249504.1:n.184-19C>G | |
| XM_011514936.1:c.133-19C>G | XP_011513238.1:n.133-19C>G | |
| XM_005249447.4:c.184-19C>G | XP_005249504.1:n.184-19C>G | |
| XM_011514936.3:c.133-19C>G | XP_011513238.1:n.133-19C>G | |
| NM_032122.5:c.223-19C>G MANE Select | NP_115498.2:n.223-19C>G | |
| NR_036448.2:n.521-19C>G | ||
| NM_001271667.2:c.-21-19C>G | NP_001258596.1:n.-21-19C>G | |
| NM_001271668.2:c.172-19C>G | NP_001258597.1:n.172-19C>G | |
| NM_001271669.2:c.118-19C>G | NP_001258598.1:n.118-19C>G | |
| NR_036448.3:n.521-19C>G |