Linked Data
ClinVar Variation Id:
358880
dbSNP Id:
rs749118285
ExAC:
7:128049801 G / A
gnomAD v2:
7-128049801-G-A
gnomAD v3:
7-128409747-G-A
gnomAD v4:
7-128409747-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128409747G>A , CM000669.2:g.128409747G>A | GRCh38 |
| NC_000007.13:g.128049801G>A , CM000669.1:g.128049801G>A | GRCh37 |
| NC_000007.12:g.127837037G>A | NCBI36 |
| NG_009194.1:g.5236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.146+9C>T | ENSP00000265385.8:n.146+9C>T | |
| ENST00000338791.11:c.146+9C>T MANE Select | ENSP00000345096.6:n.146+9C>T | |
| ENST00000338791.10:c.146+9C>T | ENSP00000345096.6:n.146+9C>T | |
| ENST00000348127.10:c.146+9C>T | ENSP00000265385.8:n.146+9C>T | |
| ENST00000354269.9:c.146+9C>T | ENSP00000346219.5:n.146+9C>T | |
| ENST00000419067.6:c.146+9C>T | ENSP00000399400.2:n.146+9C>T | |
| ENST00000473463.1:c.146+9C>T | ENSP00000420469.1:n.146+9C>T | |
| ENST00000489263.1:c.146+9C>T | ENSP00000418592.1:n.146+9C>T | |
| ENST00000491376.5:n.227+9C>T | ||
| ENST00000497868.5:c.146+9C>T | ENSP00000419609.1:n.146+9C>T | |
| ENST00000626419.2:c.-110+9C>T | ENSP00000486056.1:n.-110+9C>T | |
| NM_000883.3:c.146+9C>T | NP_000874.2:n.146+9C>T | |
| NM_001102605.1:c.146+9C>T | NP_001096075.1:n.146+9C>T | |
| NM_001142576.1:c.146+9C>T | NP_001136048.1:n.146+9C>T | |
| NM_001304521.1:c.146+9C>T | NP_001291450.1:n.146+9C>T | |
| NM_183243.2:c.146+9C>T | NP_899066.1:n.146+9C>T | |
| XM_005250314.1:c.-42+9C>T | XP_005250371.1:n.-42+9C>T | |
| XM_006715967.1:c.146+9C>T | XP_006716030.1:n.146+9C>T | |
| XM_006715968.1:c.146+9C>T | XP_006716031.1:n.146+9C>T | |
| XM_006715969.1:c.146+9C>T | XP_006716032.1:n.146+9C>T | |
| XM_006715970.2:c.146+9C>T | XP_006716033.1:n.146+9C>T | |
| XM_006715971.1:c.-42+9C>T | XP_006716034.1:n.-42+9C>T | |
| XM_017012172.1:c.-174+9C>T | XP_016867661.1:n.-174+9C>T | |
| XM_017012173.1:c.146+9C>T | XP_016867662.1:n.146+9C>T | |
| XM_024446755.1:c.146+9C>T | XP_024302523.1:n.146+9C>T | |
| XM_024446756.1:c.146+9C>T | XP_024302524.1:n.146+9C>T | |
| XM_024446757.1:c.146+9C>T | XP_024302525.1:n.146+9C>T | |
| XM_024446758.1:c.-174+9C>T | XP_024302526.1:n.-174+9C>T | |
| NM_000883.4:c.146+9C>T MANE Select | NP_000874.2:n.146+9C>T | |
| NM_001102605.2:c.146+9C>T | NP_001096075.1:n.146+9C>T | |
| NM_001142576.2:c.146+9C>T | NP_001136048.1:n.146+9C>T | |
| NM_001304521.2:c.146+9C>T | NP_001291450.1:n.146+9C>T | |
| NM_183243.3:c.146+9C>T | NP_899066.1:n.146+9C>T |