Linked Data
dbSNP Id:
rs2050457168
gnomAD v4:
6-152094497-C-T
MyVariant Identifiers:
chr6:g.152415632C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152094497C>T , CM000668.2:g.152094497C>T | GRCh38 |
| NC_000006.11:g.152415632C>T , CM000668.1:g.152415632C>T | GRCh37 |
| NC_000006.10:g.152457325C>T | NCBI36 |
| NG_008493.1:g.409002C>T | |
| NG_008493.2:g.442807C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206249.8:c.1482C>T MANE Select | ENSP00000206249.3:p.Gly494= | |
| ENST00000638569.1:c.61C>T | ENSP00000491412.1:p.Pro21Ser | |
| ENST00000641399.1:n.810C>T | ||
| ENST00000206249.7:c.1482C>T | ENSP00000206249.3:p.Gly494= | |
| ENST00000338799.9:c.1482C>T | ENSP00000342630.5:p.Gly494= | |
| ENST00000406599.5:c.699C>T | ENSP00000384064.1:p.Gly233= | |
| ENST00000427531.6:c.851-30769C>T | ENSP00000394721.2:n.851-30769C>T | |
| ENST00000440973.5:c.1482C>T | ENSP00000405330.1:p.Gly494= | |
| ENST00000443427.5:c.1482C>T | ENSP00000387500.1:p.Gly494= | |
| ENST00000456483.3:c.*357C>T | ENSP00000415934.3:n.*357C>T | |
| NM_000125.3:c.1482C>T | NP_000116.2:p.Gly494= | |
| NM_001122740.1:c.1482C>T | NP_001116212.1:p.Gly494= | |
| NM_001122741.1:c.1482C>T | NP_001116213.1:p.Gly494= | |
| NM_001122742.1:c.1482C>T | NP_001116214.1:p.Gly494= | |
| NM_001291230.1:c.1488C>T | NP_001278159.1:p.Gly496= | |
| NM_001291241.1:c.1479C>T | NP_001278170.1:p.Gly493= | |
| XM_006715374.2:c.1370-4235C>T | XP_006715437.1:n.1370-4235C>T | |
| XM_006715375.2:c.963C>T | XP_006715438.1:p.Gly321= | |
| XM_011535543.1:c.1482C>T | XP_011533845.1:p.Gly494= | |
| XM_011535544.1:c.1482C>T | XP_011533846.1:p.Gly494= | |
| XM_011535545.1:c.1482C>T | XP_011533847.1:p.Gly494= | |
| XM_011535546.1:c.1482C>T | XP_011533848.1:p.Gly494= | |
| XM_011535548.1:c.963C>T | XP_011533850.1:p.Gly321= | |
| XM_011535549.1:c.753C>T | XP_011533851.1:p.Gly251= | |
| NM_001328100.1:c.851-30769C>T | NP_001315029.1:n.851-30769C>T | |
| XM_006715374.3:c.1370-4235C>T | XP_006715437.1:n.1370-4235C>T | |
| XM_006715375.3:c.963C>T | XP_006715438.1:p.Gly321= | |
| XM_011535543.2:c.1482C>T | XP_011533845.1:p.Gly494= | |
| XM_011535544.2:c.1482C>T | XP_011533846.1:p.Gly494= | |
| XM_011535545.2:c.1482C>T | XP_011533847.1:p.Gly494= | |
| XM_011535549.2:c.753C>T | XP_011533851.1:p.Gly251= | |
| XM_017010376.1:c.1482C>T | XP_016865865.1:p.Gly494= | |
| XM_017010377.1:c.1482C>T | XP_016865866.1:p.Gly494= | |
| XM_017010378.1:c.1482C>T | XP_016865867.1:p.Gly494= | |
| XM_017010379.1:c.1482C>T | XP_016865868.1:p.Gly494= | |
| XM_017010380.1:c.1482C>T | XP_016865869.1:p.Gly494= | |
| XM_017010381.1:c.1482C>T | XP_016865870.1:p.Gly494= | |
| XM_017010382.2:c.825C>T | XP_016865871.1:p.Gly275= | |
| XM_017010383.1:c.693C>T | XP_016865872.1:p.Gly231= | |
| XR_001743223.2:n.1601-4235C>T | ||
| XR_002956266.1:n.1713C>T | ||
| NM_000125.4:c.1482C>T MANE Select | NP_000116.2:p.Gly494= | |
| NM_001328100.2:c.851-30769C>T | NP_001315029.1:n.851-30769C>T | |
| NM_001122740.2:c.1482C>T | NP_001116212.1:p.Gly494= | |
| NM_001122741.2:c.1482C>T | NP_001116213.1:p.Gly494= | |
| NM_001122742.2:c.1482C>T | NP_001116214.1:p.Gly494= | |
| NM_001291230.2:c.1488C>T | NP_001278159.1:p.Gly496= | |
| NM_001291241.2:c.1479C>T | NP_001278170.1:p.Gly493= | |
| NM_001385568.1:c.1482C>T | NP_001372497.1:p.Gly494= | |
| NM_001385569.1:c.1482C>T | NP_001372498.1:p.Gly494= | |
| NM_001385570.1:c.1370-4235C>T | NP_001372499.1:n.1370-4235C>T | |
| NM_001385571.1:c.1370-4235C>T | NP_001372500.1:n.1370-4235C>T | |
| NM_001385572.1:c.1370-4235C>T | NP_001372501.1:n.1370-4235C>T |