Linked Data
ClinVar Variation Id:
2909664
ClinVar RCV Id:
RCV003732369
dbSNP Id:
rs750672071
ExAC:
2:215884328 T / C
gnomAD v2:
2-215884328-T-C
gnomAD v3:
2-215019604-T-C
gnomAD v4:
2-215019604-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215019604T>C , CM000664.2:g.215019604T>C | GRCh38 |
| NC_000002.11:g.215884328T>C , CM000664.1:g.215884328T>C | GRCh37 |
| NC_000002.10:g.215592573T>C | NCBI36 |
| NG_007074.1:g.123824A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.1480A>G MANE Select | ENSP00000272895.7:p.Ile494Val | |
| ENST00000272895.11:c.1480A>G | ENSP00000272895.7:p.Ile494Val | |
| ENST00000389661.4:c.526A>G | ENSP00000374312.4:p.Ile176Val | |
| NM_015657.3:c.526A>G | NP_056472.2:p.Ile176Val | |
| NM_173076.2:c.1480A>G | NP_775099.2:p.Ile494Val | |
| NR_103740.1:n.1724A>G | ||
| XM_011510951.1:c.1480A>G | XP_011509253.1:p.Ile494Val | |
| XM_011510952.1:c.1480A>G | XP_011509254.1:p.Ile494Val | |
| XM_011510951.2:c.1480A>G | XP_011509253.1:p.Ile494Val | |
| NM_173076.3:c.1480A>G MANE Select | NP_775099.2:p.Ile494Val | |
| NR_103740.2:n.1922A>G | ||
| NM_015657.4:c.526A>G | NP_056472.2:p.Ile176Val |