Linked Data
dbSNP Id:
rs777457367
ExAC:
7:128041021 G / A
gnomAD v2:
7-128041021-G-A
gnomAD v4:
7-128400967-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128400967G>A , CM000669.2:g.128400967G>A | GRCh38 |
| NC_000007.13:g.128041021G>A , CM000669.1:g.128041021G>A | GRCh37 |
| NC_000007.12:g.127828257G>A | NCBI36 |
| NG_009194.1:g.14016C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.396+48C>T | ENSP00000265385.8:n.396+48C>T | |
| ENST00000484496.6:n.360+48C>T | ||
| ENST00000338791.11:c.504+48C>T MANE Select | ENSP00000345096.6:n.504+48C>T | |
| ENST00000648462.1:c.151+48C>T | ||
| ENST00000338791.10:c.504+48C>T | ENSP00000345096.6:n.504+48C>T | |
| ENST00000348127.10:c.396+48C>T | ENSP00000265385.8:n.396+48C>T | |
| ENST00000354269.9:c.474+48C>T | ENSP00000346219.5:n.474+48C>T | |
| ENST00000419067.6:c.405+48C>T | ENSP00000399400.2:n.405+48C>T | |
| ENST00000469328.5:c.250+48C>T | ||
| ENST00000470772.5:c.249+48C>T | ENSP00000417296.1:n.249+48C>T | |
| ENST00000473463.1:c.*250+48C>T | ENSP00000420469.1:n.*250+48C>T | |
| ENST00000480861.5:c.249+48C>T | ENSP00000420185.1:n.249+48C>T | |
| ENST00000484496.5:c.360+48C>T | ENSP00000418742.1:n.360+48C>T | |
| ENST00000489263.1:c.297+48C>T | ENSP00000418592.1:n.297+48C>T | |
| ENST00000491376.5:n.673+48C>T | ||
| ENST00000496200.5:c.249+48C>T | ENSP00000420803.1:n.249+48C>T | |
| ENST00000496487.5:n.324+48C>T | ||
| ENST00000497868.5:c.297+48C>T | ENSP00000419609.1:n.297+48C>T | |
| ENST00000626419.2:c.249+48C>T | ENSP00000486056.1:n.249+48C>T | |
| NM_000883.3:c.504+48C>T | NP_000874.2:n.504+48C>T | |
| NM_001102605.1:c.474+48C>T | NP_001096075.1:n.474+48C>T | |
| NM_001142573.1:c.249+48C>T | NP_001136045.1:n.249+48C>T | |
| NM_001142574.1:c.249+48C>T | NP_001136046.1:n.249+48C>T | |
| NM_001142575.1:c.249+48C>T | NP_001136047.1:n.249+48C>T | |
| NM_001142576.1:c.405+48C>T | NP_001136048.1:n.405+48C>T | |
| NM_001304521.1:c.297+48C>T | NP_001291450.1:n.297+48C>T | |
| NM_183243.2:c.396+48C>T | NP_899066.1:n.396+48C>T | |
| XM_005250314.1:c.273+48C>T | XP_005250371.1:n.273+48C>T | |
| XM_006715967.1:c.504+48C>T | XP_006716030.1:n.504+48C>T | |
| XM_006715968.1:c.474+48C>T | XP_006716031.1:n.474+48C>T | |
| XM_006715969.1:c.396+48C>T | XP_006716032.1:n.396+48C>T | |
| XM_006715970.2:c.297+48C>T | XP_006716033.1:n.297+48C>T | |
| XM_006715971.1:c.273+48C>T | XP_006716034.1:n.273+48C>T | |
| XM_017012172.1:c.273+48C>T | XP_016867661.1:n.273+48C>T | |
| XM_017012173.1:c.474+48C>T | XP_016867662.1:n.474+48C>T | |
| XM_024446755.1:c.474+48C>T | XP_024302523.1:n.474+48C>T | |
| XM_024446756.1:c.396+48C>T | XP_024302524.1:n.396+48C>T | |
| XM_024446757.1:c.297+48C>T | XP_024302525.1:n.297+48C>T | |
| XM_024446758.1:c.273+48C>T | XP_024302526.1:n.273+48C>T | |
| NM_000883.4:c.504+48C>T MANE Select | NP_000874.2:n.504+48C>T | |
| NM_001102605.2:c.474+48C>T | NP_001096075.1:n.474+48C>T | |
| NM_001142573.2:c.249+48C>T | NP_001136045.1:n.249+48C>T | |
| NM_001142574.2:c.249+48C>T | NP_001136046.1:n.249+48C>T | |
| NM_001142575.2:c.249+48C>T | NP_001136047.1:n.249+48C>T | |
| NM_001142576.2:c.405+48C>T | NP_001136048.1:n.405+48C>T | |
| NM_001304521.2:c.297+48C>T | NP_001291450.1:n.297+48C>T | |
| NM_183243.3:c.396+48C>T | NP_899066.1:n.396+48C>T |