Linked Data
dbSNP Id:
rs139817031
ExAC:
6:31322300 C / T
gnomAD v2:
6-31322300-C-T
gnomAD v3:
6-31354523-C-T
gnomAD v4:
6-31354523-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31354523C>T , CM000668.2:g.31354523C>T | GRCh38 |
| NC_000006.11:g.31322300C>T , CM000668.1:g.31322300C>T | GRCh37 |
| NC_000006.10:g.31430279C>T | NCBI36 |
| NG_023187.1:g.7690G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.3096G>A | ||
| ENST00000481849.6:n.3056G>A | ||
| ENST00000497377.6:n.2963G>A | ||
| ENST00000640094.2:c.932G>A | ENSP00000491275.2:p.Ser311Asn | |
| ENST00000696558.1:c.1118G>A | ENSP00000512716.1:n.1118G>A | |
| ENST00000696559.1:c.1049G>A | ENSP00000512717.1:p.Ser350Asn | |
| ENST00000696560.1:c.1049G>A | ENSP00000512718.1:p.Ser350Asn | |
| ENST00000696561.1:c.1049G>A | ENSP00000512719.1:p.Ser350Asn | |
| ENST00000696562.1:c.1049G>A | ENSP00000512720.1:p.Ser350Asn | |
| ENST00000412585.7:c.1049G>A MANE Select | ENSP00000399168.2:p.Ser350Asn | |
| ENST00000640094.1:c.125G>A | ENSP00000491275.1:p.Ser42Asn | |
| ENST00000412585.6:c.1049G>A | ENSP00000399168.2:p.Ser350Asn | |
| ENST00000481849.5:n.284G>A | ||
| ENST00000497377.5:n.448G>A | ||
| NM_005514.6:c.1049G>A | NP_005505.2:p.Ser350Asn | |
| XM_011514556.1:c.1082G>A | XP_011512858.1:p.Ser361Asn | |
| XM_011514557.1:c.932G>A | XP_011512859.1:p.Ser311Asn | |
| XR_926175.1:n.1488G>A | ||
| NM_005514.7:c.1049G>A | NP_005505.2:p.Ser350Asn | |
| NM_005514.8:c.1049G>A MANE Select | NP_005505.2:p.Ser350Asn |