Linked Data
ClinVar Variation Id:
197169
dbSNP Id:
rs547740249
ExAC:
7:128045838 G / A
gnomAD v2:
7-128045838-G-A
gnomAD v3:
7-128405784-G-A
gnomAD v4:
7-128405784-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128405784G>A , CM000669.2:g.128405784G>A | GRCh38 |
| NC_000007.13:g.128045838G>A , CM000669.1:g.128045838G>A | GRCh37 |
| NC_000007.12:g.127833074G>A | NCBI36 |
| NG_009194.1:g.9199C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.228C>T | ENSP00000265385.8:p.Ala76= | |
| ENST00000484496.6:n.192C>T | ||
| ENST00000338791.11:c.336C>T MANE Select | ENSP00000345096.6:p.Ala112= | |
| ENST00000338791.10:c.336C>T | ENSP00000345096.6:p.Ala112= | |
| ENST00000348127.10:c.228C>T | ENSP00000265385.8:p.Ala76= | |
| ENST00000354269.9:c.306C>T | ENSP00000346219.5:p.Ala102= | |
| ENST00000419067.6:c.255-2030C>T | ENSP00000399400.2:n.255-2030C>T | |
| ENST00000469328.5:c.82C>T | ||
| ENST00000470772.5:c.81C>T | ENSP00000417296.1:p.Ala27= | |
| ENST00000473463.1:c.*82C>T | ENSP00000420469.1:n.*82C>T | |
| ENST00000480861.5:c.81C>T | ENSP00000420185.1:p.Ala27= | |
| ENST00000484496.5:c.192C>T | ENSP00000418742.1:p.Ala64= | |
| ENST00000489263.1:c.147-2030C>T | ENSP00000418592.1:n.147-2030C>T | |
| ENST00000491376.5:n.505C>T | ||
| ENST00000496200.5:c.81C>T | ENSP00000420803.1:p.Ala27= | |
| ENST00000496487.5:n.156C>T | ||
| ENST00000497868.5:c.147-2030C>T | ENSP00000419609.1:n.147-2030C>T | |
| ENST00000626419.2:c.81C>T | ENSP00000486056.1:p.Ala27= | |
| NM_000883.3:c.336C>T | NP_000874.2:p.Ala112= | |
| NM_001102605.1:c.306C>T | NP_001096075.1:p.Ala102= | |
| NM_001142573.1:c.81C>T | NP_001136045.1:p.Ala27= | |
| NM_001142574.1:c.81C>T | NP_001136046.1:p.Ala27= | |
| NM_001142575.1:c.81C>T | NP_001136047.1:p.Ala27= | |
| NM_001142576.1:c.255-2030C>T | NP_001136048.1:n.255-2030C>T | |
| NM_001304521.1:c.147-2030C>T | NP_001291450.1:n.147-2030C>T | |
| NM_183243.2:c.228C>T | NP_899066.1:p.Ala76= | |
| XM_005250314.1:c.105C>T | XP_005250371.1:p.Ala35= | |
| XM_006715967.1:c.336C>T | XP_006716030.1:p.Ala112= | |
| XM_006715968.1:c.306C>T | XP_006716031.1:p.Ala102= | |
| XM_006715969.1:c.228C>T | XP_006716032.1:p.Ala76= | |
| XM_006715970.2:c.147-2030C>T | XP_006716033.1:n.147-2030C>T | |
| XM_006715971.1:c.105C>T | XP_006716034.1:p.Ala35= | |
| XM_017012172.1:c.105C>T | XP_016867661.1:p.Ala35= | |
| XM_017012173.1:c.306C>T | XP_016867662.1:p.Ala102= | |
| XM_024446755.1:c.306C>T | XP_024302523.1:p.Ala102= | |
| XM_024446756.1:c.228C>T | XP_024302524.1:p.Ala76= | |
| XM_024446757.1:c.147-2030C>T | XP_024302525.1:n.147-2030C>T | |
| XM_024446758.1:c.105C>T | XP_024302526.1:p.Ala35= | |
| NM_000883.4:c.336C>T MANE Select | NP_000874.2:p.Ala112= | |
| NM_001102605.2:c.306C>T | NP_001096075.1:p.Ala102= | |
| NM_001142573.2:c.81C>T | NP_001136045.1:p.Ala27= | |
| NM_001142574.2:c.81C>T | NP_001136046.1:p.Ala27= | |
| NM_001142575.2:c.81C>T | NP_001136047.1:p.Ala27= | |
| NM_001142576.2:c.255-2030C>T | NP_001136048.1:n.255-2030C>T | |
| NM_001304521.2:c.147-2030C>T | NP_001291450.1:n.147-2030C>T | |
| NM_183243.3:c.228C>T | NP_899066.1:p.Ala76= |