Linked Data
ClinVar Variation Id:
522655
dbSNP Id:
rs755536829
ExAC:
6:75847259 T / C
gnomAD v2:
6-75847259-T-C
gnomAD v3:
6-75137543-T-C
gnomAD v4:
6-75137543-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75137543T>C , CM000668.2:g.75137543T>C | GRCh38 |
| NC_000006.11:g.75847259T>C , CM000668.1:g.75847259T>C | GRCh37 |
| NC_000006.10:g.75903979T>C | NCBI36 |
| NG_042181.1:g.73365A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.5288A>G MANE Select | ENSP00000325146.8:p.Asn1763Ser | |
| ENST00000322507.12:c.5288A>G | ENSP00000325146.8:p.Asn1763Ser | |
| ENST00000345356.10:c.1796A>G | ENSP00000305147.9:p.Asn599Ser | |
| ENST00000416123.6:c.5288A>G | ENSP00000412864.2:p.Asn1763Ser | |
| ENST00000419671.1:c.1491A>G | ||
| ENST00000483888.6:c.5288A>G | ENSP00000421216.1:p.Asn1763Ser | |
| ENST00000615798.4:c.1721A>G | ENSP00000483232.1:p.Asn574Ser | |
| NM_004370.5:c.5288A>G | NP_004361.3:p.Asn1763Ser | |
| NM_080645.2:c.1796A>G | NP_542376.2:p.Asn599Ser | |
| XM_011535434.1:c.5288A>G | XP_011533736.1:p.Asn1763Ser | |
| XM_011535435.1:c.5015A>G | XP_011533737.1:p.Asn1672Ser | |
| XM_011535436.1:c.1796A>G | XP_011533738.1:p.Asn599Ser | |
| XM_011535436.2:c.1796A>G | XP_011533738.1:p.Asn599Ser | |
| XM_017010252.2:c.5252A>G | XP_016865741.1:p.Asn1751Ser | |
| NM_004370.6:c.5288A>G MANE Select | NP_004361.3:p.Asn1763Ser | |
| NM_080645.3:c.1796A>G | NP_542376.2:p.Asn599Ser |