Linked Data
ClinVar Variation Id:
377830
dbSNP Id:
rs370750611
ExAC:
6:145956362 G / C
gnomAD v2:
6-145956362-G-C
gnomAD v3:
6-145635226-G-C
gnomAD v4:
6-145635226-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145635226G>C , CM000668.2:g.145635226G>C | GRCh38 |
| NC_000006.11:g.145956362G>C , CM000668.1:g.145956362G>C | GRCh37 |
| NC_000006.10:g.145998055G>C | NCBI36 |
| NG_012832.1:g.105630C>G | |
| NG_012832.2:g.105630C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367519.9:c.718+19C>G MANE Select | ENSP00000356489.3:n.718+19C>G | |
| ENST00000435470.2:c.718+19C>G | ENSP00000405913.2:n.718+19C>G | |
| ENST00000450221.6:c.340+19C>G | ENSP00000414900.2:n.340+19C>G | |
| ENST00000611340.5:c.304+19C>G | ENSP00000480268.1:n.304+19C>G | |
| ENST00000638262.1:c.477-7533C>G | ENSP00000492876.1:n.477-7533C>G | |
| ENST00000638554.1:c.657+19C>G | ENSP00000492823.1:n.657+19C>G | |
| ENST00000638717.1:c.501+19C>G | ||
| ENST00000638778.1:c.304+19C>G | ENSP00000491353.1:n.304+19C>G | |
| ENST00000638783.1:c.304+19C>G | ENSP00000491338.1:n.304+19C>G | |
| ENST00000639049.1:c.945+19C>G | ||
| ENST00000639423.1:c.304+19C>G | ENSP00000492701.1:n.304+19C>G | |
| ENST00000639465.1:c.304+19C>G | ENSP00000491180.1:n.304+19C>G | |
| ENST00000639648.1:n.299+19C>G | ||
| ENST00000639799.1:n.1259+19C>G | ||
| ENST00000639849.1:c.*252+19C>G | ENSP00000491224.1:n.*252+19C>G | |
| ENST00000639859.1:n.6042+19C>G | ||
| ENST00000640225.1:c.*252+19C>G | ENSP00000492179.1:n.*252+19C>G | |
| ENST00000640351.1:c.454+19C>G | ||
| ENST00000640980.1:c.63-7533C>G | ENSP00000491191.1:n.63-7533C>G | |
| ENST00000367519.7:c.718+19C>G | ENSP00000356489.3:n.718+19C>G | |
| ENST00000435470.1:c.477+19C>G | ||
| ENST00000450221.5:c.417+19C>G | ||
| ENST00000489412.1:n.356C>G | ||
| ENST00000496228.1:n.612+19C>G | ||
| ENST00000611340.4:c.304+19C>G | ENSP00000480268.1:n.304+19C>G | |
| ENST00000618445.4:c.718+19C>G | ENSP00000480339.1:n.718+19C>G | |
| NM_001018041.1:c.718+19C>G | NP_001018051.1:n.718+19C>G | |
| NM_005670.3:c.718+19C>G | NP_005661.1:n.718+19C>G | |
| XM_006715564.2:c.477-7533C>G | XP_006715627.1:n.477-7533C>G | |
| XM_011536113.1:c.718+19C>G | XP_011534415.1:n.718+19C>G | |
| XM_011536114.1:c.718+19C>G | XP_011534416.1:n.718+19C>G | |
| XM_011536116.1:c.304+19C>G | XP_011534418.1:n.304+19C>G | |
| NM_001360057.1:c.477-7533C>G | NP_001346986.1:n.477-7533C>G | |
| NM_001360064.1:c.304+19C>G | NP_001346993.1:n.304+19C>G | |
| NM_001360071.1:c.304+19C>G | NP_001347000.1:n.304+19C>G | |
| NR_153397.1:n.901+19C>G | ||
| NR_153398.1:n.290-7533C>G | ||
| XM_011536113.2:c.718+19C>G | XP_011534415.1:n.718+19C>G | |
| XM_017011301.1:c.256+19C>G | XP_016866790.1:n.256+19C>G | |
| XM_017011302.1:c.256+19C>G | XP_016866791.1:n.256+19C>G | |
| XM_024446550.1:c.718+19C>G | XP_024302318.1:n.718+19C>G | |
| XM_024446551.1:c.304+19C>G | XP_024302319.1:n.304+19C>G | |
| NM_005670.4:c.718+19C>G MANE Select | NP_005661.1:n.718+19C>G | |
| NM_001018041.2:c.718+19C>G | NP_001018051.1:n.718+19C>G | |
| NM_001360057.2:c.477-7533C>G | NP_001346986.1:n.477-7533C>G | |
| NM_001360064.2:c.304+19C>G | NP_001346993.1:n.304+19C>G | |
| NM_001360071.2:c.304+19C>G | NP_001347000.1:n.304+19C>G | |
| NM_001368129.2:c.256+19C>G | NP_001355058.1:n.256+19C>G | |
| NM_001368130.1:c.737C>G | NP_001355059.1:p.Ser246Cys | |
| NM_001368131.1:c.304+19C>G | NP_001355060.1:n.304+19C>G | |
| NM_001368132.1:c.256+19C>G | NP_001355061.1:n.256+19C>G | |
| NR_153398.2:n.292-7533C>G |