Linked Data
dbSNP Id:
rs754542029
ExAC:
7:158827316 C / T
gnomAD v2:
7-158827316-C-T
gnomAD v4:
7-159034625-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.159034625C>T , CM000669.2:g.159034625C>T | GRCh38 |
| NC_000007.13:g.158827316C>T , CM000669.1:g.158827316C>T | GRCh37 |
| NC_000007.12:g.158520077C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262178.7:c.835G>A MANE Select | ENSP00000262178.2:p.Val279Met | |
| ENST00000262178.6:c.835G>A | ENSP00000262178.2:p.Val279Met | |
| ENST00000377633.7:c.787G>A | ENSP00000366860.3:p.Val263Met | |
| ENST00000402066.5:c.1258G>A | ENSP00000384497.1:p.Val420Met | |
| NM_001304522.1:c.595G>A | NP_001291451.1:p.Val199Met | |
| NM_001308259.1:c.787G>A | NP_001295188.1:p.Val263Met | |
| NM_003382.4:c.835G>A | NP_003373.2:p.Val279Met | |
| NR_130758.1:n.1021G>A | ||
| XM_005249561.2:c.910G>A | XP_005249618.1:p.Val304Met | |
| XM_006716107.1:c.835G>A | XP_006716170.1:p.Val279Met | |
| XM_006716108.2:c.646G>A | XP_006716171.1:p.Val216Met | |
| XM_011516550.1:c.787G>A | XP_011514852.1:p.Val263Met | |
| XM_011516552.1:c.421G>A | XP_011514854.1:p.Val141Met | |
| XR_242047.2:n.1230G>A | ||
| XM_005249561.3:c.910G>A | XP_005249618.1:p.Val304Met | |
| XM_006716107.2:c.835G>A | XP_006716170.1:p.Val279Met | |
| XM_006716108.3:c.646G>A | XP_006716171.1:p.Val216Met | |
| XM_011516550.2:c.787G>A | XP_011514852.1:p.Val263Met | |
| XM_017012580.1:c.421G>A | XP_016868069.1:p.Val141Met | |
| XM_024446914.1:c.910G>A | XP_024302682.1:p.Val304Met | |
| XM_024446915.1:c.910G>A | XP_024302683.1:p.Val304Met | |
| XM_024446916.1:c.835G>A | XP_024302684.1:p.Val279Met | |
| XM_024446917.1:c.646G>A | XP_024302685.1:p.Val216Met | |
| XM_024446918.1:c.421G>A | XP_024302686.1:p.Val141Met | |
| NM_003382.5:c.835G>A MANE Select | NP_003373.2:p.Val279Met | |
| NM_001304522.2:c.595G>A | NP_001291451.1:p.Val199Met | |
| NR_130758.2:n.931G>A |