Linked Data
ClinVar Variation Id:
3058220
ClinVar RCV Id:
RCV003976851
gnomAD v4:
12-70329469-G-A
MyVariant Identifiers:
chr12:g.70723249G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.70329469G>A , CM000674.2:g.70329469G>A | GRCh38 |
| NC_000012.11:g.70723249G>A , CM000674.1:g.70723249G>A | GRCh37 |
| NC_000012.10:g.69009516G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229195.8:c.285G>A MANE Select | ENSP00000229195.3:p.Gln95= | |
| ENST00000550641.6:c.225G>A | ENSP00000448024.2:p.Gln75= | |
| ENST00000229195.7:c.285G>A | ENSP00000229195.3:p.Gln95= | |
| ENST00000418359.7:c.285G>A | ENSP00000412091.3:p.Gln95= | |
| ENST00000547149.5:n.241G>A | ||
| ENST00000547321.5:n.413G>A | ||
| ENST00000548021.5:n.390-5969G>A | ||
| ENST00000548159.5:c.258G>A | ENSP00000449659.1:p.Gln86= | |
| ENST00000548230.1:n.256G>A | ||
| ENST00000548599.5:c.172-5969G>A | ENSP00000449917.1:n.172-5969G>A | |
| ENST00000548863.1:n.342-5969G>A | ||
| ENST00000549443.5:n.312-3298G>A | ||
| ENST00000549750.5:c.285G>A | ENSP00000449577.1:p.Gln95= | |
| ENST00000550160.5:c.239-5969G>A | ENSP00000448490.1:n.239-5969G>A | |
| ENST00000550194.5:c.285G>A | ENSP00000449446.1:p.Gln95= | |
| ENST00000550641.5:c.225G>A | ENSP00000448024.1:p.Gln75= | |
| ENST00000551043.5:c.285G>A | ENSP00000449260.1:p.Gln95= | |
| ENST00000551132.5:c.225G>A | ENSP00000449801.1:p.Gln75= | |
| ENST00000551873.5:c.30G>A | ENSP00000450090.1:p.Gln10= | |
| ENST00000552151.2:c.169G>A | ||
| ENST00000552231.5:c.285G>A | ENSP00000450318.1:p.Gln95= | |
| ENST00000552319.5:c.*178G>A | ENSP00000448453.1:n.*178G>A | |
| ENST00000552483.5:c.212-5969G>A | ENSP00000450077.1:n.212-5969G>A | |
| ENST00000552915.5:c.285G>A | ENSP00000447497.1:p.Gln95= | |
| NM_001199302.1:c.285G>A | NP_001186231.1:p.Gln95= | |
| NM_001199303.1:c.285G>A | NP_001186232.1:p.Gln95= | |
| NM_014515.5:c.285G>A | NP_055330.1:p.Gln95= | |
| NR_037615.1:n.1213G>A | ||
| XM_006719429.2:c.258G>A | XP_006719492.1:p.Gln86= | |
| XM_006719430.2:c.258G>A | XP_006719493.1:p.Gln86= | |
| XM_006719432.2:c.285G>A | XP_006719495.1:p.Gln95= | |
| XM_006719433.2:c.239-5969G>A | XP_006719496.1:n.239-5969G>A | |
| XM_011538399.1:c.285G>A | XP_011536701.1:p.Gln95= | |
| XM_011538400.1:c.225G>A | XP_011536702.1:p.Gln75= | |
| XM_011538401.1:c.285G>A | XP_011536703.1:p.Gln95= | |
| XM_006719429.3:c.258G>A | XP_006719492.1:p.Gln86= | |
| XM_006719430.3:c.258G>A | XP_006719493.1:p.Gln86= | |
| XM_006719432.4:c.285G>A | XP_006719495.1:p.Gln95= | |
| XM_006719433.4:c.239-5969G>A | XP_006719496.1:n.239-5969G>A | |
| XM_011538400.3:c.225G>A | XP_011536702.1:p.Gln75= | |
| XM_017019348.1:c.258G>A | XP_016874837.1:p.Gln86= | |
| XM_017019349.1:c.258G>A | XP_016874838.1:p.Gln86= | |
| XM_017019350.1:c.225G>A | XP_016874839.1:p.Gln75= | |
| XM_017019351.1:c.225G>A | XP_016874840.1:p.Gln75= | |
| XM_017019352.1:c.225G>A | XP_016874841.1:p.Gln75= | |
| XM_017019353.1:c.212-5969G>A | XP_016874842.1:n.212-5969G>A | |
| XM_017019354.1:c.212-5969G>A | XP_016874843.1:n.212-5969G>A | |
| XM_024448986.1:c.212-5969G>A | XP_024304754.1:n.212-5969G>A | |
| XM_024448987.1:c.179-5969G>A | XP_024304755.1:n.179-5969G>A | |
| XM_024448988.1:c.285G>A | XP_024304756.1:p.Gln95= | |
| XR_001748718.1:n.641G>A | ||
| NM_014515.6:c.285G>A | NP_055330.1:p.Gln95= | |
| NM_001199302.2:c.285G>A | NP_001186231.1:p.Gln95= | |
| NM_001199303.2:c.285G>A | NP_001186232.1:p.Gln95= | |
| NM_014515.7:c.285G>A MANE Select | NP_055330.1:p.Gln95= | |
| NR_037615.2:n.1186G>A |