Linked Data
ClinVar Variation Id:
334556
dbSNP Id:
rs186207055
ExAC:
2:223066608 G / A
gnomAD v2:
2-223066608-G-A
gnomAD v3:
2-222201889-G-A
gnomAD v4:
2-222201889-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222201889G>A , CM000664.2:g.222201889G>A | GRCh38 |
| NC_000002.11:g.223066608G>A , CM000664.1:g.223066608G>A | GRCh37 |
| NC_000002.10:g.222774852G>A | NCBI36 |
| NG_011632.1:g.102093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336840.11:c.1174-447C>T | ENSP00000338767.5:n.1174-447C>T | |
| ENST00000344493.9:c.1174-447C>T | ENSP00000342092.4:n.1174-447C>T | |
| ENST00000350526.9:c.*35C>T | ENSP00000343052.4:n.*35C>T | |
| ENST00000392070.7:c.1420+55C>T MANE Select | ENSP00000375922.3:n.1420+55C>T | |
| ENST00000464706.6:n.858+55C>T | ||
| ENST00000644699.1:n.746+55C>T | ||
| ENST00000646154.1:n.1234+55C>T | ||
| ENST00000336840.10:c.1174-447C>T | ENSP00000338767.5:n.1174-447C>T | |
| ENST00000344493.8:c.1174-447C>T | ENSP00000342092.4:n.1174-447C>T | |
| ENST00000350526.8:c.*35C>T | ENSP00000343052.4:n.*35C>T | |
| ENST00000392069.6:c.1420+55C>T | ENSP00000375921.2:n.1420+55C>T | |
| ENST00000392070.6:c.1420+55C>T | ENSP00000375922.2:n.1420+55C>T | |
| ENST00000409551.7:c.1417+55C>T | ENSP00000386750.3:n.1417+55C>T | |
| NM_001127366.2:c.1417+55C>T | NP_001120838.1:n.1417+55C>T | |
| NM_181457.3:c.*35C>T | NP_852122.1:n.*35C>T | |
| NM_181458.3:c.1420+55C>T | NP_852123.1:n.1420+55C>T | |
| NM_181459.3:c.1420+55C>T | NP_852124.1:n.1420+55C>T | |
| NM_181460.3:c.1174-447C>T | NP_852125.1:n.1174-447C>T | |
| NM_181461.3:c.1174-447C>T | NP_852126.1:n.1174-447C>T | |
| XM_011511278.1:c.1564+55C>T | XP_011509580.1:n.1564+55C>T | |
| XM_011511279.1:c.856+55C>T | XP_011509581.1:n.856+55C>T | |
| NM_001127366.3:c.1417+55C>T | NP_001120838.1:n.1417+55C>T | |
| NM_181457.4:c.*35C>T | NP_852122.1:n.*35C>T | |
| NM_181458.4:c.1420+55C>T MANE Select | NP_852123.1:n.1420+55C>T | |
| NM_181459.4:c.1420+55C>T | NP_852124.1:n.1420+55C>T | |
| NM_181460.4:c.1174-447C>T | NP_852125.1:n.1174-447C>T | |
| NM_181461.4:c.1174-447C>T | NP_852126.1:n.1174-447C>T |