Linked Data
ClinVar Variation Id:
30386
dbSNP Id:
rs2231137
ExAC:
4:89061114 C / T
gnomAD v2:
4-89061114-C-T
gnomAD v3:
4-88139962-C-T
gnomAD v4:
4-88139962-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88139962C>T , CM000666.2:g.88139962C>T | GRCh38 |
| NC_000004.11:g.89061114C>T , CM000666.1:g.89061114C>T | GRCh37 |
| NC_000004.10:g.89280138C>T | NCBI36 |
| NG_032067.2:g.96361G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237612.8:c.34G>A MANE Select | ENSP00000237612.3:p.Val12Met | |
| ENST00000503830.2:c.34G>A | ENSP00000426934.2:p.Val12Met | |
| ENST00000505480.6:c.34G>A | ENSP00000426916.2:p.Val12Met | |
| ENST00000650821.1:c.34G>A | ENSP00000498246.1:p.Val12Met | |
| ENST00000237612.7:c.34G>A | ENSP00000237612.3:p.Val12Met | |
| ENST00000503830.1:c.88G>A | ENSP00000426934.1:p.Val30Met | |
| ENST00000505480.5:c.148G>A | ENSP00000426916.1:p.Val50Met | |
| ENST00000515655.5:c.34G>A | ENSP00000426917.1:p.Val12Met | |
| NM_001257386.1:c.34G>A | NP_001244315.1:p.Val12Met | |
| NM_004827.2:c.34G>A | NP_004818.2:p.Val12Met | |
| XM_005263354.2:c.34G>A | XP_005263411.1:p.Val12Met | |
| XM_005263355.2:c.34G>A | XP_005263412.1:p.Val12Met | |
| XM_005263356.2:c.34G>A | XP_005263413.1:p.Val12Met | |
| XM_011532420.1:c.34G>A | XP_011530722.1:p.Val12Met | |
| NM_001257386.2:c.34G>A | NP_001244315.1:p.Val12Met | |
| NM_001348985.1:c.34G>A | NP_001335914.1:p.Val12Met | |
| NM_001348986.1:c.34G>A | NP_001335915.1:p.Val12Met | |
| NM_001348987.1:c.34G>A | NP_001335916.1:p.Val12Met | |
| NM_001348988.1:c.34G>A | NP_001335917.1:p.Val12Met | |
| NM_001348989.1:c.34G>A | NP_001335918.1:p.Val12Met | |
| XM_005263355.4:c.34G>A | XP_005263412.1:p.Val12Met | |
| XM_011532420.3:c.34G>A | XP_011530722.1:p.Val12Met | |
| XM_017008852.2:c.34G>A | XP_016864341.1:p.Val12Met | |
| NM_004827.3:c.34G>A MANE Select | NP_004818.2:p.Val12Met | |
| NM_001348989.2:c.34G>A | NP_001335918.1:p.Val12Met |