Linked Data
ClinVar Variation Id:
358868
dbSNP Id:
rs543042380
gnomAD v2:
7-128032838-G-C
gnomAD v3:
7-128392784-G-C
gnomAD v4:
7-128392784-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128392784G>C , CM000669.2:g.128392784G>C | GRCh38 |
| NC_000007.13:g.128032838G>C , CM000669.1:g.128032838G>C | GRCh37 |
| NC_000007.12:g.127820074G>C | NCBI36 |
| NG_009194.1:g.22199C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.*223C>G | ENSP00000265385.8:n.*223C>G | |
| ENST00000484496.6:n.1915C>G | ||
| ENST00000338791.11:c.*223C>G MANE Select | ENSP00000345096.6:n.*223C>G | |
| ENST00000338791.10:c.*223C>G | ENSP00000345096.6:n.*223C>G | |
| ENST00000348127.10:c.*223C>G | ENSP00000265385.8:n.*223C>G | |
| ENST00000354269.9:c.*223C>G | ENSP00000346219.5:n.*223C>G | |
| ENST00000419067.6:c.1924C>G | ENSP00000399400.2:n.1924C>G | |
| ENST00000469328.5:c.1788C>G | ||
| ENST00000470772.5:c.*223C>G | ENSP00000417296.1:n.*223C>G | |
| ENST00000484496.5:c.1915C>G | ENSP00000418742.1:n.1915C>G | |
| ENST00000496200.5:c.*223C>G | ENSP00000420803.1:n.*223C>G | |
| ENST00000626419.2:c.*223C>G | ENSP00000486056.1:n.*223C>G | |
| NM_000883.3:c.*223C>G | NP_000874.2:n.*223C>G | |
| NM_001102605.1:c.*223C>G | NP_001096075.1:n.*223C>G | |
| NM_001142573.1:c.*223C>G | NP_001136045.1:n.*223C>G | |
| NM_001142574.1:c.*223C>G | NP_001136046.1:n.*223C>G | |
| NM_001142575.1:c.*223C>G | NP_001136047.1:n.*223C>G | |
| NM_001142576.1:c.*223C>G | NP_001136048.1:n.*223C>G | |
| NM_001304521.1:c.*223C>G | NP_001291450.1:n.*223C>G | |
| NM_183243.2:c.*223C>G | NP_899066.1:n.*223C>G | |
| XM_005250314.1:c.*223C>G | XP_005250371.1:n.*223C>G | |
| XM_006715967.1:c.*144C>G | XP_006716030.1:n.*144C>G | |
| XM_006715968.1:c.*144C>G | XP_006716031.1:n.*144C>G | |
| XM_006715969.1:c.*144C>G | XP_006716032.1:n.*144C>G | |
| XM_006715970.2:c.*144C>G | XP_006716033.1:n.*144C>G | |
| XM_006715971.1:c.*144C>G | XP_006716034.1:n.*144C>G | |
| XM_011516156.1:c.*144C>G | XP_011514458.1:n.*144C>G | |
| XM_011516157.1:c.*223C>G | XP_011514459.1:n.*223C>G | |
| XM_017012172.1:c.*223C>G | XP_016867661.1:n.*223C>G | |
| XM_024446755.1:c.*144C>G | XP_024302523.1:n.*144C>G | |
| XM_024446756.1:c.*144C>G | XP_024302524.1:n.*144C>G | |
| XM_024446757.1:c.*144C>G | XP_024302525.1:n.*144C>G | |
| XM_024446758.1:c.*144C>G | XP_024302526.1:n.*144C>G | |
| NM_000883.4:c.*223C>G MANE Select | NP_000874.2:n.*223C>G | |
| NM_001102605.2:c.*223C>G | NP_001096075.1:n.*223C>G | |
| NM_001142573.2:c.*223C>G | NP_001136045.1:n.*223C>G | |
| NM_001142574.2:c.*223C>G | NP_001136046.1:n.*223C>G | |
| NM_001142575.2:c.*223C>G | NP_001136047.1:n.*223C>G | |
| NM_001142576.2:c.*223C>G | NP_001136048.1:n.*223C>G | |
| NM_001304521.2:c.*223C>G | NP_001291450.1:n.*223C>G | |
| NM_183243.3:c.*223C>G | NP_899066.1:n.*223C>G |