Linked Data
ClinVar Variation Id:
254167
ClinVar RCV Id:
RCV000240659
dbSNP Id:
rs886037911
PubMed:
PMID:26720483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128398504C>G , CM000669.2:g.128398504C>G | GRCh38 |
| NC_000007.13:g.128038558C>G , CM000669.1:g.128038558C>G | GRCh37 |
| NC_000007.12:g.127825794C>G | NCBI36 |
| NG_009194.1:g.16479G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.876G>C | ENSP00000265385.8:p.Gln292His | |
| ENST00000484496.6:n.859G>C | ||
| ENST00000338791.11:c.984G>C MANE Select | ENSP00000345096.6:p.Gln328His | |
| ENST00000648462.1:c.616G>C | ||
| ENST00000338791.10:c.984G>C | ENSP00000345096.6:p.Gln328His | |
| ENST00000348127.10:c.876G>C | ENSP00000265385.8:p.Gln292His | |
| ENST00000354269.9:c.954G>C | ENSP00000346219.5:p.Gln318His | |
| ENST00000419067.6:c.885G>C | ENSP00000399400.2:p.Gln295His | |
| ENST00000468842.1:n.573G>C | ||
| ENST00000469328.5:c.749G>C | ||
| ENST00000470772.5:c.726G>C | ENSP00000417296.1:p.Gln242His | |
| ENST00000480861.5:c.714G>C | ENSP00000420185.1:p.Gln238His | |
| ENST00000484496.5:c.859G>C | ENSP00000418742.1:n.859G>C | |
| ENST00000496200.5:c.654G>C | ENSP00000420803.1:p.Gln218His | |
| ENST00000497868.5:c.777G>C | ENSP00000419609.1:p.Gln259His | |
| ENST00000626419.2:c.726G>C | ENSP00000486056.1:p.Gln242His | |
| NM_000883.3:c.984G>C | NP_000874.2:p.Gln328His | |
| NM_001102605.1:c.954G>C | NP_001096075.1:p.Gln318His | |
| NM_001142573.1:c.729G>C | NP_001136045.1:p.Gln243His | |
| NM_001142574.1:c.714G>C | NP_001136046.1:p.Gln238His | |
| NM_001142575.1:c.654G>C | NP_001136047.1:p.Gln218His | |
| NM_001142576.1:c.885G>C | NP_001136048.1:p.Gln295His | |
| NM_001304521.1:c.777G>C | NP_001291450.1:p.Gln259His | |
| NM_183243.2:c.876G>C | NP_899066.1:p.Gln292His | |
| XM_005250314.1:c.753G>C | XP_005250371.1:p.Gln251His | |
| XM_006715967.1:c.984G>C | XP_006716030.1:p.Gln328His | |
| XM_006715968.1:c.954G>C | XP_006716031.1:p.Gln318His | |
| XM_006715969.1:c.876G>C | XP_006716032.1:p.Gln292His | |
| XM_006715970.2:c.777G>C | XP_006716033.1:p.Gln259His | |
| XM_006715971.1:c.753G>C | XP_006716034.1:p.Gln251His | |
| XM_011516156.1:c.366G>C | XP_011514458.1:p.Gln122His | |
| XM_011516157.1:c.366G>C | XP_011514459.1:p.Gln122His | |
| XM_017012172.1:c.753G>C | XP_016867661.1:p.Gln251His | |
| XM_017012173.1:c.954G>C | XP_016867662.1:p.Gln318His | |
| XM_024446755.1:c.954G>C | XP_024302523.1:p.Gln318His | |
| XM_024446756.1:c.876G>C | XP_024302524.1:p.Gln292His | |
| XM_024446757.1:c.777G>C | XP_024302525.1:p.Gln259His | |
| XM_024446758.1:c.753G>C | XP_024302526.1:p.Gln251His | |
| NM_000883.4:c.984G>C MANE Select | NP_000874.2:p.Gln328His | |
| NM_001102605.2:c.954G>C | NP_001096075.1:p.Gln318His | |
| NM_001142573.2:c.729G>C | NP_001136045.1:p.Gln243His | |
| NM_001142574.2:c.714G>C | NP_001136046.1:p.Gln238His | |
| NM_001142575.2:c.654G>C | NP_001136047.1:p.Gln218His | |
| NM_001142576.2:c.885G>C | NP_001136048.1:p.Gln295His | |
| NM_001304521.2:c.777G>C | NP_001291450.1:p.Gln259His | |
| NM_183243.3:c.876G>C | NP_899066.1:p.Gln292His |