Linked Data
ClinVar Variation Id:
334254
dbSNP Id:
rs141615275
ExAC:
2:215865740 A / C
gnomAD v2:
2-215865740-A-C
gnomAD v3:
2-215001016-A-C
gnomAD v4:
2-215001016-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215001016A>C , CM000664.2:g.215001016A>C | GRCh38 |
| NC_000002.11:g.215865740A>C , CM000664.1:g.215865740A>C | GRCh37 |
| NC_000002.10:g.215573985A>C | NCBI36 |
| NG_007074.1:g.142412T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.2868T>G MANE Select | ENSP00000272895.7:p.Val956= | |
| ENST00000272895.11:c.2868T>G | ENSP00000272895.7:p.Val956= | |
| ENST00000389661.4:c.1914T>G | ENSP00000374312.4:p.Val638= | |
| NM_015657.3:c.1914T>G | NP_056472.2:p.Val638= | |
| NM_173076.2:c.2868T>G | NP_775099.2:p.Val956= | |
| NR_103740.1:n.3112T>G | ||
| XM_011510951.1:c.2868T>G | XP_011509253.1:p.Val956= | |
| XM_011510952.1:c.2868T>G | XP_011509254.1:p.Val956= | |
| XM_011510951.2:c.2868T>G | XP_011509253.1:p.Val956= | |
| NM_173076.3:c.2868T>G MANE Select | NP_775099.2:p.Val956= | |
| NR_103740.2:n.3310T>G | ||
| NM_015657.4:c.1914T>G | NP_056472.2:p.Val638= |