Linked Data
ClinVar Variation Id:
1221297
ClinVar RCV Id:
RCV001597588
dbSNP Id:
rs770574009
ExAC:
19:4099162 G / A
gnomAD v2:
19-4099162-G-A
gnomAD v4:
19-4099164-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099164G>A , CM000681.2:g.4099164G>A | GRCh38 |
| NC_000019.9:g.4099162G>A , CM000681.1:g.4099162G>A | GRCh37 |
| NC_000019.8:g.4050162G>A | NCBI36 |
| NG_007996.1:g.29965C>T , LRG_750:g.29965C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1358+37C>T | ||
| ENST00000687128.1:n.1395C>T | ||
| ENST00000688002.1:n.1250C>T | ||
| ENST00000689792.1:n.823+37C>T | ||
| ENST00000262948.10:c.919+37C>T MANE Select | ENSP00000262948.4:n.919+37C>T | |
| ENST00000262948.9:c.919+37C>T | ENSP00000262948.3:n.919+37C>T | |
| ENST00000394867.8:c.628+37C>T | ENSP00000378336.1:n.628+37C>T | |
| ENST00000595715.1:n.734+37C>T | ||
| ENST00000597263.5:n.169+1855C>T | ||
| ENST00000599021.1:c.30-1821C>T | ||
| ENST00000600584.5:n.1479+37C>T | ||
| ENST00000601786.5:n.1220+37C>T | ||
| NM_030662.3:c.919+37C>T , LRG_750t1:c.919+37C>T | NP_109587.1:n.919+37C>T | |
| XM_006722799.2:c.705+1855C>T | XP_006722862.1:n.705+1855C>T | |
| XM_011528133.1:c.349+37C>T | XP_011526435.1:n.349+37C>T | |
| XM_017026989.1:c.919+37C>T | XP_016882478.1:n.919+37C>T | |
| XM_017026990.1:c.705+1855C>T | XP_016882479.1:n.705+1855C>T | |
| NM_030662.4:c.919+37C>T MANE Select | NP_109587.1:n.919+37C>T |