Linked Data
ClinVar Variation Id:
2950973
ClinVar RCV Id:
RCV003802235
dbSNP Id:
rs1288779605
gnomAD v2:
6-75855132-C-T
gnomAD v4:
6-75145416-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75145416C>T , CM000668.2:g.75145416C>T | GRCh38 |
| NC_000006.11:g.75855132C>T , CM000668.1:g.75855132C>T | GRCh37 |
| NC_000006.10:g.75911852C>T | NCBI36 |
| NG_042181.1:g.65492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.4600G>A MANE Select | ENSP00000325146.8:p.Asp1534Asn | |
| ENST00000322507.12:c.4600G>A | ENSP00000325146.8:p.Asp1534Asn | |
| ENST00000345356.10:c.1108G>A | ENSP00000305147.9:p.Asp370Asn | |
| ENST00000416123.6:c.4600G>A | ENSP00000412864.2:p.Asp1534Asn | |
| ENST00000419671.1:c.824G>A | ||
| ENST00000474564.1:n.224G>A | ||
| ENST00000483888.6:c.4600G>A | ENSP00000421216.1:p.Asp1534Asn | |
| ENST00000615798.4:c.1033G>A | ENSP00000483232.1:p.Asp345Asn | |
| NM_004370.5:c.4600G>A | NP_004361.3:p.Asp1534Asn | |
| NM_080645.2:c.1108G>A | NP_542376.2:p.Asp370Asn | |
| XM_011535434.1:c.4600G>A | XP_011533736.1:p.Asp1534Asn | |
| XM_011535435.1:c.4327G>A | XP_011533737.1:p.Asp1443Asn | |
| XM_011535436.1:c.1108G>A | XP_011533738.1:p.Asp370Asn | |
| XM_011535436.2:c.1108G>A | XP_011533738.1:p.Asp370Asn | |
| XM_017010252.2:c.4564G>A | XP_016865741.1:p.Asp1522Asn | |
| NM_004370.6:c.4600G>A MANE Select | NP_004361.3:p.Asp1534Asn | |
| NM_080645.3:c.1108G>A | NP_542376.2:p.Asp370Asn |