Linked Data
dbSNP Id:
rs751125949
ExAC:
9:136594909 G / T
gnomAD v2:
9-136594909-G-T
gnomAD v4:
9-133729787-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133729787G>T , CM000671.2:g.133729787G>T | GRCh38 |
| NC_000009.11:g.136594909G>T , CM000671.1:g.136594909G>T | GRCh37 |
| NC_000009.10:g.135584730G>T | NCBI36 |
| NG_008987.1:g.15169C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439388.6:c.893C>A MANE Select | ENSP00000403084.1:p.Thr298Asn | |
| ENST00000298628.6:c.893C>A | ENSP00000298628.5:p.Thr298Asn | |
| ENST00000371867.5:c.626C>A | ENSP00000360933.1:p.Thr209Asn | |
| ENST00000371872.8:c.893C>A | ENSP00000360938.4:p.Thr298Asn | |
| ENST00000422262.6:c.53C>A | ENSP00000415537.3:p.Thr18Asn | |
| ENST00000427237.6:c.893C>A | ENSP00000394210.2:p.Thr298Asn | |
| ENST00000439388.5:c.893C>A | ENSP00000403084.1:p.Thr298Asn | |
| ENST00000616662.4:c.893C>A | ENSP00000484683.1:p.Thr298Asn | |
| NM_001134707.1:c.893C>A | NP_001128179.1:p.Thr298Asn | |
| NM_007101.3:c.893C>A | NP_009032.2:p.Thr298Asn | |
| XM_006716990.2:c.893C>A | XP_006717053.1:p.Thr298Asn | |
| XM_011518333.1:c.893C>A | XP_011516635.1:p.Thr298Asn | |
| XR_929726.1:n.1060C>A | ||
| XR_929727.1:n.1060C>A | ||
| XR_929728.1:n.1060C>A | ||
| XM_017014367.1:c.893C>A | XP_016869856.1:p.Thr298Asn | |
| XM_017014368.1:c.893C>A | XP_016869857.1:p.Thr298Asn | |
| XR_001746213.1:n.1189C>A | ||
| XR_001746214.1:n.2372C>A | ||
| XR_001746215.1:n.1191C>A | ||
| XR_001746216.1:n.1189C>A | ||
| XR_001746217.1:n.1189C>A | ||
| XR_001746218.1:n.1189C>A | ||
| XR_929726.2:n.1060C>A | ||
| NM_001134707.2:c.893C>A MANE Select | NP_001128179.1:p.Thr298Asn | |
| NM_007101.4:c.893C>A | NP_009032.2:p.Thr298Asn |