Linked Data
ClinVar Variation Id:
35542
ClinVar RCV Id:
RCV000029197
dbSNP Id:
rs370273690
ExAC:
5:43702754 T / G
gnomAD v2:
5-43702754-T-G
gnomAD v3:
5-43702652-T-G
gnomAD v4:
5-43702652-T-G
PubMed:
PMID:22634753
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.43702652T>G , CM000667.2:g.43702652T>G | GRCh38 |
| NC_000005.9:g.43702754T>G , CM000667.1:g.43702754T>G | GRCh37 |
| NC_000005.8:g.43738511T>G | NCBI36 |
| NG_032869.1:g.104964T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344920.9:c.3027T>G MANE Select | ENSP00000343873.4:p.Asn1009Lys | |
| ENST00000652986.1:c.*2333T>G | ENSP00000499801.1:n.*2333T>G | |
| ENST00000653251.1:c.3027T>G | ENSP00000499281.1:p.Asn1009Lys | |
| ENST00000654405.1:c.2850T>G | ENSP00000499670.1:p.Asn950Lys | |
| ENST00000654931.1:c.*2889T>G | ENSP00000499477.1:n.*2889T>G | |
| ENST00000656666.1:c.3027T>G | ENSP00000499249.1:p.Asn1009Lys | |
| ENST00000657973.1:c.*3143T>G | ENSP00000499581.1:n.*3143T>G | |
| ENST00000658729.1:c.*2592T>G | ENSP00000499331.1:n.*2592T>G | |
| ENST00000660676.1:c.*2786T>G | ENSP00000499491.1:n.*2786T>G | |
| ENST00000662525.1:c.3027T>G | ENSP00000499639.1:p.Asn1009Lys | |
| ENST00000669601.1:c.3027T>G | ENSP00000499527.1:p.Asn1009Lys | |
| ENST00000670904.1:c.3027T>G | ENSP00000499611.1:p.Asn1009Lys | |
| ENST00000671668.1:c.3027T>G | ENSP00000499494.1:p.Asn1009Lys | |
| ENST00000264663.9:c.3027T>G | ENSP00000264663.5:p.Asn1009Lys | |
| ENST00000344920.8:c.3027T>G | ENSP00000343873.4:p.Asn1009Lys | |
| ENST00000503059.1:c.60T>G | ||
| ENST00000512996.6:c.2634T>G | ENSP00000426343.1:p.Asn878Lys | |
| NM_012343.3:c.3027T>G | NP_036475.3:p.Asn1009Lys | |
| NM_182977.2:c.3027T>G | NP_892022.2:p.Asn1009Lys | |
| XM_005248274.3:c.3027T>G | XP_005248331.1:p.Asn1009Lys | |
| XM_005248275.3:c.1527T>G | XP_005248332.1:p.Asn509Lys | |
| XM_006714461.2:c.2634T>G | XP_006714524.1:p.Asn878Lys | |
| XM_011514001.1:c.3027T>G | XP_011512303.1:p.Asn1009Lys | |
| XM_011514002.1:c.2634T>G | XP_011512304.1:p.Asn878Lys | |
| NM_001331026.1:c.2634T>G | NP_001317955.1:p.Asn878Lys | |
| XM_005248274.5:c.3027T>G | XP_005248331.1:p.Asn1009Lys | |
| XM_005248275.5:c.1527T>G | XP_005248332.1:p.Asn509Lys | |
| XM_006714461.4:c.2634T>G | XP_006714524.1:p.Asn878Lys | |
| XM_011514001.3:c.3027T>G | XP_011512303.1:p.Asn1009Lys | |
| XM_017009293.2:c.3027T>G | XP_016864782.1:p.Asn1009Lys | |
| XM_024446009.1:c.1527T>G | XP_024301777.1:p.Asn509Lys | |
| NM_182977.3:c.3027T>G MANE Select | NP_892022.2:p.Asn1009Lys | |
| NM_001331026.2:c.2634T>G | NP_001317955.1:p.Asn878Lys | |
| NM_012343.4:c.3027T>G | NP_036475.3:p.Asn1009Lys |