Linked Data
ClinVar Variation Id:
726514
ClinVar RCV Id:
RCV000900738
dbSNP Id:
rs200636403
ExAC:
4:104080487 G / A
gnomAD v2:
4-104080487-G-A
gnomAD v3:
4-103159330-G-A
gnomAD v4:
4-103159330-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103159330G>A , CM000666.2:g.103159330G>A | GRCh38 |
| NC_000004.11:g.104080487G>A , CM000666.1:g.104080487G>A | GRCh37 |
| NC_000004.10:g.104299936G>A | NCBI36 |
| NG_041798.1:g.44080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265148.9:c.2287-6C>T MANE Select | ENSP00000265148.3:n.2287-6C>T | |
| ENST00000380026.8:c.2212-6C>T | ENSP00000369365.3:n.2212-6C>T | |
| ENST00000265148.7:c.2287-6C>T | ENSP00000265148.3:n.2287-6C>T | |
| ENST00000380026.7:c.2212-6C>T | ENSP00000369365.3:n.2212-6C>T | |
| ENST00000503705.5:c.2287-6C>T | ENSP00000423981.1:n.2287-6C>T | |
| ENST00000611174.4:c.2287-6C>T | ENSP00000483542.1:n.2287-6C>T | |
| NM_001286734.1:c.2212-6C>T | NP_001273663.1:n.2212-6C>T | |
| NM_001813.2:c.2287-6C>T | NP_001804.2:n.2287-6C>T | |
| XM_011531544.1:c.2212-6C>T | XP_011529846.1:n.2212-6C>T | |
| XM_011531545.1:c.2287-6C>T | XP_011529847.1:n.2287-6C>T | |
| XM_011531546.1:c.2287-6C>T | XP_011529848.1:n.2287-6C>T | |
| XM_011531547.1:c.2287-6C>T | XP_011529849.1:n.2287-6C>T | |
| XM_011531548.1:c.2287-6C>T | XP_011529850.1:n.2287-6C>T | |
| XM_011531549.1:c.2287-6C>T | XP_011529851.1:n.2287-6C>T | |
| XM_011531544.2:c.2212-6C>T | XP_011529846.1:n.2212-6C>T | |
| XM_011531545.2:c.2287-6C>T | XP_011529847.1:n.2287-6C>T | |
| XM_011531546.3:c.2287-6C>T | XP_011529848.1:n.2287-6C>T | |
| XM_011531547.2:c.2287-6C>T | XP_011529849.1:n.2287-6C>T | |
| XM_011531548.2:c.2287-6C>T | XP_011529850.1:n.2287-6C>T | |
| XM_011531549.2:c.2287-6C>T | XP_011529851.1:n.2287-6C>T | |
| XM_017007659.1:c.2287-6C>T | XP_016863148.1:n.2287-6C>T | |
| NM_001286734.2:c.2212-6C>T | NP_001273663.1:n.2212-6C>T | |
| NM_001813.3:c.2287-6C>T MANE Select | NP_001804.2:n.2287-6C>T |