Linked Data
ClinVar Variation Id:
214705
dbSNP Id:
rs199648872
ExAC:
2:240900606 G / C
gnomAD v2:
2-240900606-G-C
gnomAD v3:
2-239961189-G-C
gnomAD v4:
2-239961189-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.239961189G>C , CM000664.2:g.239961189G>C | GRCh38 |
| NC_000002.11:g.240900606G>C , CM000664.1:g.240900606G>C | GRCh37 |
| NC_000002.10:g.240549279G>C | NCBI36 |
| NG_031855.1:g.69214C>G | |
| NG_031855.2:g.69214C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252711.7:c.1000-3C>G MANE Select | ENSP00000252711.2:n.1000-3C>G | |
| ENST00000476216.6:n.4139-3C>G | ||
| ENST00000620965.5:c.1048-3C>G | ENSP00000480897.2:n.1048-3C>G | |
| ENST00000676491.1:c.1000-2152C>G | ENSP00000504528.1:n.1000-2152C>G | |
| ENST00000676782.1:c.1000-22479C>G | ENSP00000504717.1:n.1000-22479C>G | |
| ENST00000676929.1:c.1000-3C>G | ENSP00000503956.1:n.1000-3C>G | |
| ENST00000677057.1:n.4028+44021C>G | ||
| ENST00000677114.1:c.*394-3C>G | ENSP00000504818.1:n.*394-3C>G | |
| ENST00000677155.1:c.*189-3C>G | ENSP00000502921.1:n.*189-3C>G | |
| ENST00000677294.1:c.826-3C>G | ENSP00000503461.1:n.826-3C>G | |
| ENST00000677324.1:n.3497-3C>G | ||
| ENST00000677395.1:c.*2696-3C>G | ENSP00000502890.1:n.*2696-3C>G | |
| ENST00000677407.1:c.1000-10171C>G | ENSP00000503141.1:n.1000-10171C>G | |
| ENST00000677567.1:c.1079-3C>G | ENSP00000503217.1:n.1079-3C>G | |
| ENST00000677692.1:n.4029-3C>G | ||
| ENST00000677764.1:c.*311-3C>G | ENSP00000504547.1:n.*311-3C>G | |
| ENST00000677979.1:c.*479-3C>G | ENSP00000503341.1:n.*479-3C>G | |
| ENST00000678158.1:c.1000-3C>G | ENSP00000504765.1:n.1000-3C>G | |
| ENST00000678188.1:n.4221-3C>G | ||
| ENST00000678455.1:c.997-3C>G | ENSP00000504395.1:n.997-3C>G | |
| ENST00000678468.1:c.*538-3C>G | ENSP00000503925.1:n.*538-3C>G | |
| ENST00000678562.1:c.*3835-3C>G | ENSP00000502954.1:n.*3835-3C>G | |
| ENST00000678832.1:c.*656-3C>G | ENSP00000502992.1:n.*656-3C>G | |
| ENST00000678914.1:c.898-3C>G | ENSP00000504515.1:n.898-3C>G | |
| ENST00000679158.1:c.891-3C>G | ENSP00000503837.1:n.891-3C>G | |
| ENST00000679183.1:c.999+28885C>G | ENSP00000503016.1:n.999+28885C>G | |
| ENST00000679308.1:c.*55-3C>G | ENSP00000503148.1:n.*55-3C>G | |
| ENST00000252711.6:c.1000-3C>G | ENSP00000252711.2:n.1000-3C>G | |
| ENST00000404554.5:c.1105-3C>G | ENSP00000385697.1:n.1105-3C>G | |
| ENST00000419408.5:c.294+28885C>G | ENSP00000408055.1:n.294+28885C>G | |
| ENST00000443626.5:c.712-3C>G | ENSP00000411527.1:n.712-3C>G | |
| ENST00000471378.1:n.82-2152C>G | ||
| ENST00000476216.5:n.362-3C>G | ||
| ENST00000485344.6:n.4064-3C>G | ||
| ENST00000620965.4:c.1000-3C>G | ENSP00000480897.1:n.1000-3C>G | |
| NM_004544.3:c.1000-3C>G | NP_004535.1:n.1000-3C>G | |
| XM_011511229.1:c.891-3C>G | XP_011509531.1:n.891-3C>G | |
| NM_001322020.1:c.891-3C>G | NP_001308949.1:n.891-3C>G | |
| NR_136155.1:n.4143-3C>G | ||
| NR_136156.1:n.4034-3C>G | ||
| NR_136157.1:n.3974-3C>G | ||
| NR_136158.1:n.4033+44021C>G | ||
| XR_001738750.2:n.1247-3C>G | ||
| NM_004544.4:c.1000-3C>G MANE Select | NP_004535.1:n.1000-3C>G | |
| NM_001322020.2:c.891-3C>G | NP_001308949.1:n.891-3C>G | |
| NR_136155.2:n.4083-3C>G | ||
| NR_136156.2:n.3974-3C>G | ||
| NR_136157.2:n.3914-3C>G | ||
| NR_136158.2:n.3973+44021C>G |