Linked Data
ClinVar Variation Id:
314239
dbSNP Id:
rs142075589
ExAC:
14:74951269 T / C
gnomAD v2:
14-74951269-T-C
gnomAD v3:
14-74484566-T-C
gnomAD v4:
14-74484566-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74484566T>C , CM000676.2:g.74484566T>C | GRCh38 |
| NC_000014.8:g.74951269T>C , CM000676.1:g.74951269T>C | GRCh37 |
| NC_000014.7:g.74021022T>C | NCBI36 |
| NG_007117.1:g.13816A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555619.6:c.212A>G MANE Select | ENSP00000451112.2:p.Lys71Arg | |
| ENST00000238633.6:c.212A>G | ENSP00000238633.2:p.Lys71Arg | |
| ENST00000434013.6:c.212A>G | ENSP00000412103.2:p.Lys71Arg | |
| ENST00000541064.5:c.212A>G | ENSP00000442488.1:p.Lys71Arg | |
| ENST00000553490.5:c.212A>G | ENSP00000451180.1:p.Lys71Arg | |
| ENST00000554482.1:c.158+1763A>G | ENSP00000451314.1:n.158+1763A>G | |
| ENST00000555592.1:c.212A>G | ENSP00000450887.1:p.Lys71Arg | |
| ENST00000555619.5:c.212A>G | ENSP00000451112.1:p.Lys71Arg | |
| ENST00000556009.5:c.277A>G | ||
| ENST00000557510.5:c.212A>G | ENSP00000451206.1:p.Lys71Arg | |
| NM_006432.3:c.212A>G | NP_006423.1:p.Lys71Arg | |
| NM_001363688.1:c.212A>G | NP_001350617.1:p.Lys71Arg | |
| NM_006432.4:c.212A>G | NP_006423.1:p.Lys71Arg | |
| NM_001375440.1:c.212A>G | NP_001362369.1:p.Lys71Arg | |
| NM_006432.5:c.212A>G MANE Select | NP_006423.1:p.Lys71Arg |