Linked Data
dbSNP Id:
rs638405
ExAC:
11:117163824 C / G
gnomAD v2:
11-117163824-C-G
gnomAD v3:
11-117293108-C-G
gnomAD v4:
11-117293108-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117293108C>G , CM000673.2:g.117293108C>G | GRCh38 |
| NC_000011.9:g.117163824C>G , CM000673.1:g.117163824C>G | GRCh37 |
| NC_000011.8:g.116669034C>G | NCBI36 |
| NG_029372.1:g.28149G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313005.11:c.786G>C MANE Select | ENSP00000318585.6:p.Val262= | |
| ENST00000510915.6:c.486G>C | ENSP00000475171.2:p.Val162= | |
| ENST00000514464.2:c.598G>C | ENSP00000505118.1:n.598G>C | |
| ENST00000679585.1:n.1229G>C | ||
| ENST00000680271.1:n.574G>C | ||
| ENST00000680681.1:c.486G>C | ENSP00000505419.1:p.Val162= | |
| ENST00000680800.1:n.592G>C | ||
| ENST00000680971.1:c.84G>C | ENSP00000506107.1:p.Val28= | |
| ENST00000313005.10:c.786G>C | ENSP00000318585.6:p.Val262= | |
| ENST00000392937.10:c.486G>C | ENSP00000475405.1:p.Val162= | |
| ENST00000428381.6:c.579G>C | ENSP00000402228.2:p.Val193= | |
| ENST00000445823.6:c.654G>C | ENSP00000403685.2:p.Val218= | |
| ENST00000504995.5:c.84G>C | ENSP00000434486.2:p.Val28= | |
| ENST00000510630.5:c.411G>C | ENSP00000422461.1:p.Val137= | |
| ENST00000510915.5:c.84G>C | ENSP00000475171.1:p.Val28= | |
| ENST00000513780.5:c.711G>C | ENSP00000424536.1:p.Val237= | |
| ENST00000528053.5:c.786G>C | ENSP00000431848.1:p.Val262= | |
| ENST00000530824.1:n.652G>C | ||
| NM_001207048.1:c.486G>C | NP_001193977.1:p.Val162= | |
| NM_001207049.1:c.411G>C | NP_001193978.1:p.Val137= | |
| NM_012104.4:c.786G>C | NP_036236.1:p.Val262= | |
| NM_138971.3:c.654G>C | NP_620427.1:p.Val218= | |
| NM_138972.3:c.711G>C | NP_620428.1:p.Val237= | |
| NM_138973.3:c.579G>C | NP_620429.1:p.Val193= | |
| NM_001207048.2:c.486G>C | NP_001193977.1:p.Val162= | |
| NM_001207049.2:c.411G>C | NP_001193978.1:p.Val137= | |
| NM_001207048.3:c.486G>C | NP_001193977.1:p.Val162= | |
| NM_001207049.3:c.411G>C | NP_001193978.1:p.Val137= | |
| NM_012104.6:c.786G>C MANE Select | NP_036236.1:p.Val262= | |
| NM_138971.4:c.654G>C | NP_620427.1:p.Val218= | |
| NM_138972.4:c.711G>C | NP_620428.1:p.Val237= | |
| NM_138973.4:c.579G>C | NP_620429.1:p.Val193= |