Linked Data
ClinVar Variation Id:
391879
ClinVar RCV Id:
RCV000443711
dbSNP Id:
rs1057524272
gnomAD v3:
Y-14830121-C-A
gnomAD v4:
Y-14830121-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.14830121C>A , CM000686.2:g.14830121C>A | GRCh38 |
| NC_000024.9:g.16942001C>A , CM000686.1:g.16942001C>A | GRCh37 |
| NC_000024.8:g.15451395C>A | NCBI36 |
| NG_028212.1:g.312514C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684976.1:c.1263C>A MANE Select | ENSP00000510011.1:p.Asn421Lys | |
| ENST00000643089.1:c.1263C>A | ENSP00000496594.1:p.Asn421Lys | |
| ENST00000339174.9:c.1203C>A | ENSP00000342535.5:p.Asn401Lys | |
| ENST00000355905.6:c.1203C>A | ENSP00000348169.2:p.Asn401Lys | |
| ENST00000382868.5:c.1374C>A | ENSP00000372320.1:p.Asn458Lys | |
| ENST00000382872.5:c.699C>A | ENSP00000372325.1:p.Asn233Lys | |
| ENST00000476359.1:n.1748C>A | ||
| NM_001206850.1:c.699C>A | NP_001193779.1:p.Asn233Lys | |
| NM_014893.4:c.1203C>A | NP_055708.3:p.Asn401Lys | |
| NR_028319.1:n.1677C>A | ||
| NR_046355.1:n.1442C>A | ||
| XM_006724874.1:c.1263C>A | XP_006724937.1:p.Asn421Lys | |
| XM_011531424.1:c.1263C>A | XP_011529726.1:p.Asn421Lys | |
| XM_011531425.1:c.1263C>A | XP_011529727.1:p.Asn421Lys | |
| XM_011531426.1:c.1263C>A | XP_011529728.1:p.Asn421Lys | |
| XM_011531427.1:c.1263C>A | XP_011529729.1:p.Asn421Lys | |
| XM_011531428.1:c.1263C>A | XP_011529730.1:p.Asn421Lys | |
| XM_011531429.1:c.1263C>A | XP_011529731.1:p.Asn421Lys | |
| XM_011531430.1:c.1263C>A | XP_011529732.1:p.Asn421Lys | |
| NM_001365584.1:c.1263C>A | NP_001352513.1:p.Asn421Lys | |
| NM_001365586.1:c.1263C>A | NP_001352515.1:p.Asn421Lys | |
| NM_001365588.1:c.1263C>A MANE Select | NP_001352517.1:p.Asn421Lys | |
| NM_001365590.1:c.1203C>A | NP_001352519.1:p.Asn401Lys | |
| NM_001365591.1:c.1203C>A | NP_001352520.1:p.Asn401Lys | |
| NM_001365592.1:c.1203C>A | NP_001352521.1:p.Asn401Lys | |
| NM_001365593.1:c.1203C>A | NP_001352522.1:p.Asn401Lys | |
| XM_006724874.2:c.1263C>A | XP_006724937.1:p.Asn421Lys | |
| XM_011531427.2:c.1263C>A | XP_011529729.1:p.Asn421Lys | |
| XM_011531429.2:c.1263C>A | XP_011529731.1:p.Asn421Lys | |
| XM_011531430.2:c.1263C>A | XP_011529732.1:p.Asn421Lys | |
| XM_017030036.1:c.1203C>A | XP_016885525.1:p.Asn401Lys | |
| XM_017030039.1:c.828C>A | XP_016885528.1:p.Asn276Lys | |
| XM_017030040.1:c.699C>A | XP_016885529.1:p.Asn233Lys | |
| XM_024452490.1:c.1263C>A | XP_024308258.1:p.Asn421Lys | |
| NM_001206850.2:c.699C>A | NP_001193779.1:p.Asn233Lys | |
| NM_014893.5:c.1203C>A | NP_055708.3:p.Asn401Lys | |
| NR_046355.2:n.1442C>A | ||
| NM_001394830.1:c.1263C>A | NP_001381759.1:p.Asn421Lys | |
| NM_001394831.1:c.1203C>A | NP_001381760.1:p.Asn401Lys |