Linked Data
dbSNP Id:
rs1399487487
gnomAD v2:
9-136595201-C-T
gnomAD v3:
9-133730079-C-T
gnomAD v4:
9-133730079-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133730079C>T , CM000671.2:g.133730079C>T | GRCh38 |
| NC_000009.11:g.136595201C>T , CM000671.1:g.136595201C>T | GRCh37 |
| NC_000009.10:g.135585022C>T | NCBI36 |
| NG_008987.1:g.14877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439388.6:c.799G>A MANE Select | ENSP00000403084.1:p.Val267Met | |
| ENST00000298628.6:c.799G>A | ENSP00000298628.5:p.Val267Met | |
| ENST00000371867.5:c.532G>A | ENSP00000360933.1:p.Val178Met | |
| ENST00000371872.8:c.799G>A | ENSP00000360938.4:p.Val267Met | |
| ENST00000422262.6:c.-42G>A | ENSP00000415537.3:n.-42G>A | |
| ENST00000427237.6:c.799G>A | ENSP00000394210.2:p.Val267Met | |
| ENST00000439388.5:c.799G>A | ENSP00000403084.1:p.Val267Met | |
| ENST00000616662.4:c.799G>A | ENSP00000484683.1:p.Val267Met | |
| NM_001134707.1:c.799G>A | NP_001128179.1:p.Val267Met | |
| NM_007101.3:c.799G>A | NP_009032.2:p.Val267Met | |
| XM_006716990.2:c.799G>A | XP_006717053.1:p.Val267Met | |
| XM_011518333.1:c.799G>A | XP_011516635.1:p.Val267Met | |
| XR_929726.1:n.966G>A | ||
| XR_929727.1:n.966G>A | ||
| XR_929728.1:n.966G>A | ||
| XM_017014367.1:c.799G>A | XP_016869856.1:p.Val267Met | |
| XM_017014368.1:c.799G>A | XP_016869857.1:p.Val267Met | |
| XR_001746213.1:n.1095G>A | ||
| XR_001746214.1:n.2278G>A | ||
| XR_001746215.1:n.1097G>A | ||
| XR_001746216.1:n.1095G>A | ||
| XR_001746217.1:n.1095G>A | ||
| XR_001746218.1:n.1095G>A | ||
| XR_929726.2:n.966G>A | ||
| NM_001134707.2:c.799G>A MANE Select | NP_001128179.1:p.Val267Met | |
| NM_007101.4:c.799G>A | NP_009032.2:p.Val267Met |