Linked Data
ClinVar Variation Id:
776005
ClinVar RCV Id:
RCV000956240
dbSNP Id:
rs17033437
ExAC:
4:104066348 G / A
gnomAD v2:
4-104066348-G-A
gnomAD v3:
4-103145191-G-A
gnomAD v4:
4-103145191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103145191G>A , CM000666.2:g.103145191G>A | GRCh38 |
| NC_000004.11:g.104066348G>A , CM000666.1:g.104066348G>A | GRCh37 |
| NC_000004.10:g.104285797G>A | NCBI36 |
| NG_041798.1:g.58219C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265148.9:c.4716C>T MANE Select | ENSP00000265148.3:p.Leu1572= | |
| ENST00000380026.8:c.4641C>T | ENSP00000369365.3:p.Leu1547= | |
| ENST00000265148.7:c.4716C>T | ENSP00000265148.3:p.Leu1572= | |
| ENST00000380026.7:c.4641C>T | ENSP00000369365.3:p.Leu1547= | |
| ENST00000611174.4:c.4716C>T | ENSP00000483542.1:p.Leu1572= | |
| NM_001286734.1:c.4641C>T | NP_001273663.1:p.Leu1547= | |
| NM_001813.2:c.4716C>T | NP_001804.2:p.Leu1572= | |
| XM_011531544.1:c.4641C>T | XP_011529846.1:p.Leu1547= | |
| XM_011531545.1:c.4716C>T | XP_011529847.1:p.Leu1572= | |
| XM_011531546.1:c.4512C>T | XP_011529848.1:p.Leu1504= | |
| XM_011531547.1:c.4716C>T | XP_011529849.1:p.Leu1572= | |
| XM_011531548.1:c.4716C>T | XP_011529850.1:p.Leu1572= | |
| XM_011531549.1:c.4414-573C>T | XP_011529851.1:n.4414-573C>T | |
| XM_011531544.2:c.4641C>T | XP_011529846.1:p.Leu1547= | |
| XM_011531545.2:c.4716C>T | XP_011529847.1:p.Leu1572= | |
| XM_011531546.3:c.4512C>T | XP_011529848.1:p.Leu1504= | |
| XM_011531547.2:c.4716C>T | XP_011529849.1:p.Leu1572= | |
| XM_011531548.2:c.4716C>T | XP_011529850.1:p.Leu1572= | |
| XM_011531549.2:c.4414-573C>T | XP_011529851.1:n.4414-573C>T | |
| XM_017007659.1:c.4716C>T | XP_016863148.1:p.Leu1572= | |
| NM_001286734.2:c.4641C>T | NP_001273663.1:p.Leu1547= | |
| NM_001813.3:c.4716C>T MANE Select | NP_001804.2:p.Leu1572= |