Linked Data
ClinVar Variation Id:
211284
ClinVar RCV Id:
RCV000192638
RCV000727207
RCV001136883
RCV001081600
RCV001847861
RCV002314827
RCV004530126
dbSNP Id:
rs370286749
ExAC:
2:241685184 G / C
gnomAD v2:
2-241685184-G-C
gnomAD v3:
2-240745767-G-C
gnomAD v4:
2-240745767-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240745767G>C , CM000664.2:g.240745767G>C | GRCh38 |
| NC_000002.11:g.241685184G>C , CM000664.1:g.241685184G>C | GRCh37 |
| NC_000002.10:g.241333857G>C | NCBI36 |
| NG_029724.1:g.79441C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320389.12:c.3042C>G | ENSP00000322791.8:p.Ala1014= | |
| ENST00000404283.9:c.3345C>G | ENSP00000384231.5:p.Ala1115= | |
| ENST00000431776.6:c.114C>G | ENSP00000414613.2:p.Ala38= | |
| ENST00000498729.9:c.3345C>G MANE Select | ENSP00000438388.1:p.Ala1115= | |
| ENST00000647731.1:c.3042C>G | ENSP00000498099.1:p.Ala1014= | |
| ENST00000647885.1:c.3042C>G | ENSP00000497739.1:p.Ala1014= | |
| ENST00000648047.1:c.2280C>G | ENSP00000497935.1:p.Ala760= | |
| ENST00000648129.1:c.3318C>G | ENSP00000497293.1:p.Ala1106= | |
| ENST00000648364.1:c.3069C>G | ENSP00000498196.1:p.Ala1023= | |
| ENST00000648680.1:c.3069C>G | ENSP00000497586.1:p.Ala1023= | |
| ENST00000649064.1:n.3200C>G | ||
| ENST00000649096.1:c.3042C>G | ENSP00000497030.1:p.Ala1014= | |
| ENST00000649190.1:n.2339C>G | ||
| ENST00000649306.1:c.3144C>G | ENSP00000497678.1:p.Ala1048= | |
| ENST00000650053.1:c.3042C>G | ENSP00000497824.1:p.Ala1014= | |
| ENST00000650130.1:c.3318C>G | ENSP00000498082.1:p.Ala1106= | |
| ENST00000650430.1:n.2417C>G | ||
| ENST00000320389.11:c.3042C>G | ENSP00000322791.7:p.Ala1014= | |
| ENST00000404283.7:c.3345C>G | ENSP00000384231.3:p.Ala1115= | |
| ENST00000415042.1:c.422C>G | ||
| ENST00000498729.6:c.3345C>G | ENSP00000438388.1:p.Ala1115= | |
| NM_001244008.1:c.3345C>G | NP_001230937.1:p.Ala1115= | |
| NM_004321.6:c.3042C>G | NP_004312.2:p.Ala1014= | |
| XM_005247022.1:c.3345C>G | XP_005247079.1:p.Ala1115= | |
| XM_005247023.1:c.3345C>G | XP_005247080.1:p.Ala1115= | |
| XM_005247024.1:c.3318C>G | XP_005247081.1:p.Ala1106= | |
| XM_005247026.1:c.3069C>G | XP_005247083.1:p.Ala1023= | |
| XM_005247027.1:c.3042C>G | XP_005247084.1:p.Ala1014= | |
| XM_005247028.1:c.3042C>G | XP_005247085.1:p.Ala1014= | |
| XM_006712605.1:c.3318C>G | XP_006712668.1:p.Ala1106= | |
| XM_011511364.1:c.3345C>G | XP_011509666.1:p.Ala1115= | |
| XM_011511365.1:c.3069C>G | XP_011509667.1:p.Ala1023= | |
| XM_011511366.1:c.2340C>G | XP_011509668.1:p.Ala780= | |
| XM_011511367.1:c.2340C>G | XP_011509669.1:p.Ala780= | |
| NM_001320705.1:c.3069C>G | NP_001307634.1:p.Ala1023= | |
| NM_001330289.1:c.3069C>G | NP_001317218.1:p.Ala1023= | |
| NM_001330290.1:c.3144C>G | NP_001317219.1:p.Ala1048= | |
| NM_004321.7:c.3042C>G | NP_004312.2:p.Ala1014= | |
| NM_001320705.2:c.3069C>G | NP_001307634.1:p.Ala1023= | |
| NM_001330289.2:c.3069C>G | NP_001317218.1:p.Ala1023= | |
| NM_001330290.2:c.3144C>G | NP_001317219.1:p.Ala1048= | |
| NM_001244008.2:c.3345C>G MANE Select | NP_001230937.1:p.Ala1115= | |
| NM_001379631.1:c.3420C>G | NP_001366560.1:p.Ala1140= | |
| NM_001379632.1:c.3294C>G | NP_001366561.1:p.Ala1098= | |
| NM_001379633.1:c.3318C>G | NP_001366562.1:p.Ala1106= | |
| NM_001379634.1:c.3144C>G | NP_001366563.1:p.Ala1048= | |
| NM_001379635.1:c.3144C>G | NP_001366564.1:p.Ala1048= | |
| NM_001379636.1:c.3042C>G | NP_001366565.1:p.Ala1014= | |
| NM_001379637.1:c.3117C>G | NP_001366566.1:p.Ala1039= | |
| NM_001379638.1:c.3069C>G | NP_001366567.1:p.Ala1023= | |
| NM_001379639.1:c.3042C>G | NP_001366568.1:p.Ala1014= | |
| NM_001379640.1:c.3039C>G | NP_001366569.1:p.Ala1013= | |
| NM_001379641.1:c.3042C>G | NP_001366570.1:p.Ala1014= | |
| NM_001379642.1:c.3318C>G | NP_001366571.1:p.Ala1106= | |
| NM_001379645.1:c.3318C>G | NP_001366574.1:p.Ala1106= | |
| NM_001379646.1:c.3144C>G | NP_001366575.1:p.Ala1048= | |
| NM_001379648.1:c.3117C>G | NP_001366577.1:p.Ala1039= | |
| NM_001379649.1:c.3042C>G | NP_001366578.1:p.Ala1014= | |
| NM_001379650.1:c.3042C>G | NP_001366579.1:p.Ala1014= | |
| NM_001379651.1:c.3042C>G | NP_001366580.1:p.Ala1014= | |
| NM_001379653.1:c.3042C>G | NP_001366582.1:p.Ala1014= | |
| NM_004321.8:c.3042C>G | NP_004312.2:p.Ala1014= |