Linked Data
ClinVar Variation Id:
2956562
ClinVar RCV Id:
RCV003816273
dbSNP Id:
rs185203180
ExAC:
19:11283814 G / A
gnomAD v2:
19-11283814-G-A
gnomAD v3:
19-11173138-G-A
gnomAD v4:
19-11173138-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11173138G>A , CM000681.2:g.11173138G>A | GRCh38 |
| NC_000019.9:g.11283814G>A , CM000681.1:g.11283814G>A | GRCh37 |
| NC_000019.8:g.11144814G>A | NCBI36 |
| NG_051186.1:g.29430C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586659.6:c.2069-15C>T MANE Select | ENSP00000465650.1:n.2069-15C>T | |
| ENST00000586659.5:c.2069-15C>T | ENSP00000465650.1:n.2069-15C>T | |
| ENST00000588787.5:c.267-15C>T | ||
| ENST00000589359.5:c.2093-15C>T | ENSP00000468002.1:n.2093-15C>T | |
| ENST00000589894.1:c.2069-15C>T | ENSP00000467029.1:n.2069-15C>T | |
| NM_001136191.2:c.2069-15C>T | NP_001129663.1:n.2069-15C>T | |
| NM_015493.6:c.2093-15C>T | NP_056308.3:n.2093-15C>T | |
| NM_001329451.1:c.2069-15C>T | NP_001316380.1:n.2069-15C>T | |
| NM_001136191.3:c.2069-15C>T MANE Select | NP_001129663.1:n.2069-15C>T | |
| NM_001329451.2:c.2069-15C>T | NP_001316380.1:n.2069-15C>T | |
| NM_001379548.1:c.2093-15C>T | NP_001366477.1:n.2093-15C>T | |
| NM_001379549.1:c.2093-15C>T | NP_001366478.1:n.2093-15C>T | |
| NM_001379550.1:c.2093-15C>T | NP_001366479.1:n.2093-15C>T | |
| NM_001379551.1:c.2093-15C>T | NP_001366480.1:n.2093-15C>T | |
| NM_001379552.1:c.2093-15C>T | NP_001366481.1:n.2093-15C>T | |
| NM_001379553.1:c.2093-15C>T | NP_001366482.1:n.2093-15C>T | |
| NM_001379554.1:c.2093-15C>T | NP_001366483.1:n.2093-15C>T | |
| NM_001379555.1:c.2069-15C>T | NP_001366484.1:n.2069-15C>T | |
| NM_001379556.1:c.2069-15C>T | NP_001366485.1:n.2069-15C>T | |
| NM_001379557.1:c.2069-15C>T | NP_001366486.1:n.2069-15C>T | |
| NM_001379558.1:c.2069-15C>T | NP_001366487.1:n.2069-15C>T | |
| NM_001379559.1:c.2069-15C>T | NP_001366488.1:n.2069-15C>T | |
| NM_001379560.1:c.2069-15C>T | NP_001366489.1:n.2069-15C>T | |
| NM_001379561.1:c.2069-15C>T | NP_001366490.1:n.2069-15C>T | |
| NM_001379562.1:c.2069-15C>T | NP_001366491.1:n.2069-15C>T | |
| NM_001379563.1:c.2069-15C>T | NP_001366492.1:n.2069-15C>T | |
| NM_015493.7:c.2093-15C>T | NP_056308.3:n.2093-15C>T |