Linked Data
dbSNP Id:
rs33972313
ExAC:
5:138715502 C / T
gnomAD v2:
5-138715502-C-T
gnomAD v3:
5-139379813-C-T
gnomAD v4:
5-139379813-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139379813C>T , CM000667.2:g.139379813C>T | GRCh38 |
| NC_000005.9:g.138715502C>T , CM000667.1:g.138715502C>T | GRCh37 |
| NC_000005.8:g.138743401C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348729.8:c.790G>A MANE Select | ENSP00000302701.4:p.Val264Met | |
| ENST00000348729.7:c.790G>A | ENSP00000302701.4:p.Val264Met | |
| ENST00000353963.7:c.802G>A | ENSP00000302851.5:p.Val268Met | |
| ENST00000504513.1:c.164+143G>A | ||
| ENST00000506512.1:n.401G>A | ||
| NM_005847.4:c.790G>A | NP_005838.3:p.Val264Met | |
| NM_152685.3:c.802G>A | NP_689898.2:p.Val268Met | |
| XM_005272148.3:c.910G>A | XP_005272205.3:p.Val304Met | |
| XM_005272149.3:c.898G>A | XP_005272206.3:p.Val300Met | |
| XM_006714741.2:c.910G>A | XP_006714804.2:p.Val304Met | |
| XM_011543765.1:c.910G>A | XP_011542067.1:p.Val304Met | |
| XM_011543766.1:c.691G>A | XP_011542068.1:p.Val231Met | |
| XM_011543767.1:c.595G>A | XP_011542069.1:p.Val199Met | |
| XM_011543768.1:c.475G>A | XP_011542070.1:p.Val159Met | |
| XM_011543769.1:c.85G>A | XP_011542071.1:p.Val29Met | |
| XM_005272149.4:c.898G>A | XP_005272206.3:p.Val300Met | |
| XM_011543765.2:c.910G>A | XP_011542067.1:p.Val304Met | |
| NM_005847.5:c.790G>A MANE Select | NP_005838.3:p.Val264Met | |
| NM_152685.4:c.802G>A | NP_689898.2:p.Val268Met |