Linked Data
ClinVar Variation Id:
445949
ClinVar RCV Id:
RCV000514590
dbSNP Id:
rs753866885
ExAC:
19:14034629 G / A
gnomAD v2:
19-14034629-G-A
gnomAD v4:
19-13923816-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13923816G>A , CM000681.2:g.13923816G>A | GRCh38 |
| NC_000019.9:g.14034629G>A , CM000681.1:g.14034629G>A | GRCh37 |
| NC_000019.8:g.13895629G>A | NCBI36 |
| NG_013089.1:g.22674G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679637.1:n.737+5G>A | ||
| ENST00000679937.1:n.639+5G>A | ||
| ENST00000680977.1:c.697+5G>A | ||
| ENST00000681428.1:n.864+5G>A | ||
| ENST00000681846.1:n.697+5G>A | ||
| ENST00000318003.11:c.1940+5G>A MANE Select | ENSP00000313601.6:n.1940+5G>A | |
| ENST00000586955.5:c.1343+5G>A | ||
| ENST00000587508.1:c.304+5G>A | ||
| ENST00000589138.5:n.1064+5G>A | ||
| ENST00000589224.1:n.145+5G>A | ||
| ENST00000589606.5:c.1940+5G>A | ENSP00000467526.1:n.1940+5G>A | |
| NM_017721.4:c.1940+5G>A | NP_060191.3:n.1940+5G>A | |
| XM_005259972.2:c.1937+5G>A | XP_005260029.1:n.1937+5G>A | |
| XM_005259973.2:c.1940+5G>A | XP_005260030.1:n.1940+5G>A | |
| XM_005259974.2:c.1928+5G>A | XP_005260031.1:n.1928+5G>A | |
| XM_005259975.2:c.1925+5G>A | XP_005260032.1:n.1925+5G>A | |
| XM_005259973.3:c.1940+5G>A | XP_005260030.1:n.1940+5G>A | |
| XM_005259974.3:c.1928+5G>A | XP_005260031.1:n.1928+5G>A | |
| XM_024451562.1:c.1940+5G>A | XP_024307330.1:n.1940+5G>A | |
| XM_024451563.1:c.1937+5G>A | XP_024307331.1:n.1937+5G>A | |
| XM_024451564.1:c.1928+5G>A | XP_024307332.1:n.1928+5G>A | |
| XM_024451565.1:c.1925+5G>A | XP_024307333.1:n.1925+5G>A | |
| NM_017721.5:c.1940+5G>A MANE Select | NP_060191.3:n.1940+5G>A |