Linked Data
ClinVar Variation Id:
39639
dbSNP Id:
rs606231239
gnomAD v2:
19-48809582-T-C
gnomAD v3:
19-48306325-T-C
gnomAD v4:
19-48306325-T-C
PubMed:
PMID:23261302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48306325T>C , CM000681.2:g.48306325T>C | GRCh38 |
| NC_000019.9:g.48809582T>C , CM000681.1:g.48809582T>C | GRCh37 |
| NC_000019.8:g.53501394T>C | NCBI36 |
| NG_033251.1:g.18751A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474199.6:c.598-2A>G | ENSP00000501357.1:n.598-2A>G | |
| ENST00000674207.1:c.*306-2A>G | ENSP00000501374.1:n.*306-2A>G | |
| ENST00000674294.1:c.598-2A>G MANE Select | ENSP00000501363.1:n.598-2A>G | |
| ENST00000315396.7:c.487-2A>G | ENSP00000318429.7:n.487-2A>G | |
| ENST00000474199.5:n.615-2A>G | ||
| ENST00000504608.6:n.439-2A>G | ||
| NM_144577.3:c.487-2A>G | NP_653178.3:n.487-2A>G | |
| XM_005259413.2:c.598-2A>G | XP_005259470.1:n.598-2A>G | |
| XM_005259414.2:c.598-2A>G | XP_005259471.1:n.598-2A>G | |
| XM_005259415.2:c.598-2A>G | XP_005259472.1:n.598-2A>G | |
| XM_011527515.1:c.487-2A>G | XP_011525817.1:n.487-2A>G | |
| XM_011527516.1:c.487-2A>G | XP_011525818.1:n.487-2A>G | |
| XM_011527517.1:c.598-2A>G | XP_011525819.1:n.598-2A>G | |
| XM_011527518.1:c.598-2A>G | XP_011525820.1:n.598-2A>G | |
| NM_001364171.1:c.598-2A>G | NP_001351100.1:n.598-2A>G | |
| NM_144577.4:c.487-2A>G | NP_653178.3:n.487-2A>G | |
| XM_005259414.3:c.598-2A>G | XP_005259471.1:n.598-2A>G | |
| XM_005259415.3:c.598-2A>G | XP_005259472.1:n.598-2A>G | |
| XM_011527515.2:c.487-2A>G | XP_011525817.1:n.487-2A>G | |
| XM_011527516.2:c.487-2A>G | XP_011525818.1:n.487-2A>G | |
| XM_017027483.1:c.322-2A>G | XP_016882972.1:n.322-2A>G | |
| XM_024451782.1:c.637-2A>G | XP_024307550.1:n.637-2A>G | |
| XM_024451783.1:c.598-2A>G | XP_024307551.1:n.598-2A>G | |
| NM_001364171.2:c.598-2A>G MANE Select | NP_001351100.1:n.598-2A>G |