Linked Data
dbSNP Id:
rs375673126
ExAC:
19:12776335 C / G
gnomAD v2:
19-12776335-C-G
gnomAD v3:
19-12665521-C-G
gnomAD v4:
19-12665521-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12665521C>G , CM000681.2:g.12665521C>G | GRCh38 |
| NC_000019.9:g.12776335C>G , CM000681.1:g.12776335C>G | GRCh37 |
| NC_000019.8:g.12637335C>G | NCBI36 |
| NG_008318.1:g.6257G>C | |
| NG_015814.1:g.3718C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.267G>C MANE Select | ENSP00000395473.2:p.Lys89Asn | |
| ENST00000221363.8:c.267G>C | ENSP00000221363.4:p.Lys89Asn | |
| ENST00000456935.6:c.267G>C | ENSP00000395473.2:p.Lys89Asn | |
| ENST00000466794.5:n.249G>C | ||
| ENST00000486847.2:c.164G>C | ENSP00000470174.1:p.Arg55Thr | |
| ENST00000596512.5:n.205G>C | ||
| ENST00000597961.1:c.258G>C | ENSP00000472710.1:p.Lys86Asn | |
| ENST00000598876.1:c.294G>C | ENSP00000470533.1:p.Lys98Asn | |
| ENST00000600281.1:n.308G>C | ||
| NM_000528.3:c.267G>C | NP_000519.2:p.Lys89Asn | |
| NM_001173498.1:c.267G>C | NP_001166969.1:p.Lys89Asn | |
| XM_005259913.1:c.267G>C | XP_005259970.1:p.Lys89Asn | |
| XM_005259913.2:c.267G>C | XP_005259970.1:p.Lys89Asn | |
| XM_024451518.1:c.-752G>C | XP_024307286.1:n.-752G>C | |
| NM_000528.4:c.267G>C MANE Select | NP_000519.2:p.Lys89Asn | |
| NM_001173498.2:c.267G>C | NP_001166969.1:p.Lys89Asn |