Linked Data
ClinVar Variation Id:
2499684
ClinVar RCV Id:
RCV003223776
dbSNP Id:
rs1472478100
gnomAD v3:
9-137156688-G-C
gnomAD v4:
9-137156688-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137156688G>C , CM000671.2:g.137156688G>C | GRCh38 |
| NC_000009.11:g.140051140G>C , CM000671.1:g.140051140G>C | GRCh37 |
| NC_000009.10:g.139170961G>C | NCBI36 |
| NG_011507.1:g.22532G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371553.8:c.754G>C | ENSP00000360608.3:p.Val252Leu | |
| ENST00000371560.5:c.754G>C | ENSP00000360615.3:p.Val252Leu | |
| ENST00000371561.8:c.691G>C MANE Select | ENSP00000360616.3:p.Val231Leu | |
| ENST00000675295.1:n.121G>C | ||
| ENST00000676396.1:n.2201G>C | ||
| ENST00000350902.9:c.754G>C | ENSP00000316915.9:p.Val252Leu | |
| ENST00000371546.8:c.754G>C | ENSP00000360601.4:p.Val252Leu | |
| ENST00000371550.8:c.691G>C | ENSP00000360605.4:p.Val231Leu | |
| ENST00000371553.7:c.754G>C | ENSP00000360608.3:p.Val252Leu | |
| ENST00000371555.8:c.754G>C | ENSP00000360610.4:p.Val252Leu | |
| ENST00000371559.8:c.691G>C | ENSP00000360614.4:p.Val231Leu | |
| ENST00000371560.4:c.754G>C | ENSP00000360615.3:p.Val252Leu | |
| ENST00000371561.7:c.691G>C | ENSP00000360616.3:p.Val231Leu | |
| ENST00000471122.5:n.768G>C | ||
| NM_000832.6:c.691G>C | NP_000823.4:p.Val231Leu | |
| NM_001185090.1:c.754G>C | NP_001172019.1:p.Val252Leu | |
| NM_001185091.1:c.754G>C | NP_001172020.1:p.Val252Leu | |
| NM_007327.3:c.691G>C | NP_015566.1:p.Val231Leu | |
| NM_021569.3:c.691G>C | NP_067544.1:p.Val231Leu | |
| XM_005266071.2:c.691G>C | XP_005266128.1:p.Val231Leu | |
| XM_005266072.2:c.754G>C | XP_005266129.1:p.Val252Leu | |
| XM_005266073.3:c.754G>C | XP_005266130.1:p.Val252Leu | |
| XM_011518583.1:c.754G>C | XP_011516885.1:p.Val252Leu | |
| XM_005266071.3:c.691G>C | XP_005266128.1:p.Val231Leu | |
| XM_005266072.3:c.754G>C | XP_005266129.1:p.Val252Leu | |
| XM_005266073.4:c.754G>C | XP_005266130.1:p.Val252Leu | |
| XM_011518583.2:c.754G>C | XP_011516885.1:p.Val252Leu | |
| NM_007327.4:c.691G>C MANE Select | NP_015566.1:p.Val231Leu | |
| NM_000832.7:c.691G>C | NP_000823.4:p.Val231Leu | |
| NM_001185090.2:c.754G>C | NP_001172019.1:p.Val252Leu | |
| NM_001185091.2:c.754G>C | NP_001172020.1:p.Val252Leu | |
| NM_021569.4:c.691G>C | NP_067544.1:p.Val231Leu |