Linked Data
ClinVar Variation Id:
241266
dbSNP Id:
rs143215183
ExAC:
10:28270448 C / G
gnomAD v2:
10-28270448-C-G
gnomAD v3:
10-27981519-C-G
gnomAD v4:
10-27981519-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27981519C>G , CM000672.2:g.27981519C>G | GRCh38 |
| NC_000010.10:g.28270448C>G , CM000672.1:g.28270448C>G | GRCh37 |
| NC_000010.9:g.28310454C>G | NCBI36 |
| NG_042820.1:g.22532G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305242.10:c.883G>C MANE Select | ENSP00000306410.5:p.Val295Leu | |
| ENST00000672841.1:c.-42G>C | ENSP00000499983.1:n.-42G>C | |
| ENST00000672877.1:c.-241G>C | ENSP00000500120.1:n.-241G>C | |
| ENST00000673384.1:c.-42G>C | ENSP00000500856.1:n.-42G>C | |
| ENST00000673439.1:c.883G>C | ENSP00000500782.1:p.Val295Leu | |
| ENST00000673512.1:c.-42G>C | ENSP00000499923.1:n.-42G>C | |
| ENST00000305242.9:c.883G>C | ENSP00000306410.5:p.Val295Leu | |
| ENST00000434029.1:c.565G>C | ENSP00000398155.1:p.Val189Leu | |
| ENST00000480504.1:n.140G>C | ||
| NM_001290020.1:c.883G>C | NP_001276949.1:p.Val295Leu | |
| NM_001290021.1:c.-241G>C | NP_001276950.1:n.-241G>C | |
| NM_001312689.1:c.-42G>C | NP_001299618.1:n.-42G>C | |
| NM_018076.3:c.883G>C | NP_060546.2:p.Val295Leu | |
| NM_018076.4:c.883G>C | NP_060546.2:p.Val295Leu | |
| XM_011519526.1:c.883G>C | XP_011517828.1:p.Val295Leu | |
| XM_011519527.1:c.883G>C | XP_011517829.1:p.Val295Leu | |
| XM_011519528.1:c.883G>C | XP_011517830.1:p.Val295Leu | |
| XM_011519529.1:c.883G>C | XP_011517831.1:p.Val295Leu | |
| XM_011519530.1:c.883G>C | XP_011517832.1:p.Val295Leu | |
| XM_011519531.1:c.883G>C | XP_011517833.1:p.Val295Leu | |
| XM_011519532.1:c.883G>C | XP_011517834.1:p.Val295Leu | |
| XM_011519533.1:c.-42G>C | XP_011517835.1:n.-42G>C | |
| XM_011519534.1:c.-42G>C | XP_011517836.1:n.-42G>C | |
| XM_011519535.1:c.-151+1410G>C | XP_011517837.1:n.-151+1410G>C | |
| XM_011519536.1:c.883G>C | XP_011517838.1:p.Val295Leu | |
| XM_017016371.1:c.883G>C | XP_016871860.1:p.Val295Leu | |
| XM_024448049.1:c.883G>C | XP_024303817.1:p.Val295Leu | |
| XM_024448050.1:c.883G>C | XP_024303818.1:p.Val295Leu | |
| XM_024448051.1:c.883G>C | XP_024303819.1:p.Val295Leu | |
| XM_024448052.1:c.883G>C | XP_024303820.1:p.Val295Leu | |
| XM_024448053.1:c.883G>C | XP_024303821.1:p.Val295Leu | |
| XM_024448054.1:c.883G>C | XP_024303822.1:p.Val295Leu | |
| XM_024448055.1:c.-42G>C | XP_024303823.1:n.-42G>C | |
| XM_024448056.1:c.-42G>C | XP_024303824.1:n.-42G>C | |
| XM_024448057.1:c.-151+1410G>C | XP_024303825.1:n.-151+1410G>C | |
| NM_001290020.2:c.883G>C | NP_001276949.1:p.Val295Leu | |
| NM_001290021.2:c.-241G>C | NP_001276950.1:n.-241G>C | |
| NM_001312689.2:c.-42G>C | NP_001299618.1:n.-42G>C | |
| NM_018076.5:c.883G>C MANE Select | NP_060546.2:p.Val295Leu |