Linked Data
ClinVar Variation Id:
2444645
ClinVar RCV Id:
RCV003154411
dbSNP Id:
rs368168134
gnomAD v2:
12-80752464-C-A
gnomAD v4:
12-80358684-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80358684C>A , CM000674.2:g.80358684C>A | GRCh38 |
| NC_000012.11:g.80752464C>A , CM000674.1:g.80752464C>A | GRCh37 |
| NC_000012.10:g.79276595C>A | NCBI36 |
| NG_033008.1:g.154232C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.6135C>A MANE Select | ENSP00000447211.2:p.Asn2045Lys | |
| ENST00000642294.1:c.75C>A | ENSP00000493572.1:p.Asn25Lys | |
| ENST00000646859.1:c.6000C>A | ENSP00000496036.1:p.Asn2000Lys | |
| ENST00000298820.7:c.1436C>A | ||
| ENST00000458043.6:c.6108C>A | ENSP00000400895.2:p.Asn2036Lys | |
| ENST00000546620.5:n.391C>A | ||
| ENST00000547103.5:c.6072C>A | ENSP00000447211.1:p.Asn2024Lys | |
| ENST00000550182.2:c.159C>A | ENSP00000449641.1:p.Asn53Lys | |
| ENST00000551340.5:c.263C>A | ||
| NM_173591.3:c.6108C>A | NP_775862.3:p.Asn2036Lys | |
| XM_005268802.2:c.6159C>A | XP_005268859.1:p.Asn2053Lys | |
| XM_011538191.1:c.6159C>A | XP_011536493.1:p.Asn2053Lys | |
| XM_011538192.1:c.6006C>A | XP_011536494.1:p.Asn2002Lys | |
| XM_011538193.1:c.5793C>A | XP_011536495.1:p.Asn1931Lys | |
| XM_005268802.3:c.6159C>A | XP_005268859.1:p.Asn2053Lys | |
| XM_011538192.2:c.6006C>A | XP_011536494.1:p.Asn2002Lys | |
| NM_001368062.1:c.5973C>A | NP_001354991.1:p.Asn1991Lys | |
| NM_001368062.3:c.6000C>A | NP_001354991.2:p.Asn2000Lys | |
| NM_001378609.3:c.6135C>A MANE Select | NP_001365538.2:p.Asn2045Lys | |
| NM_001378610.3:c.6135C>A | NP_001365539.2:p.Asn2045Lys | |
| NM_173591.7:c.6135C>A | NP_775862.4:p.Asn2045Lys |