Linked Data
dbSNP Id:
rs913721752
gnomAD v2:
14-21897180-T-G
gnomAD v3:
14-21429021-T-G
gnomAD v4:
14-21429021-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21429021T>G , CM000676.2:g.21429021T>G | GRCh38 |
| NC_000014.8:g.21897180T>G , CM000676.1:g.21897180T>G | GRCh37 |
| NC_000014.7:g.20967020T>G | NCBI36 |
| NG_021249.1:g.13278A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.321A>C | ENSP00000406288.3:p.Pro107= | |
| ENST00000553651.2:n.2964A>C | ||
| ENST00000555962.6:c.-111+2790A>C | ENSP00000495174.1:n.-111+2790A>C | |
| ENST00000557364.6:c.1158A>C | ENSP00000451601.1:p.Pro386= | |
| ENST00000642518.1:c.321A>C | ENSP00000496722.1:p.Pro107= | |
| ENST00000643048.1:n.1453A>C | ||
| ENST00000643469.1:c.1158A>C | ENSP00000495070.1:p.Pro386= | |
| ENST00000645140.1:c.1070A>C | ||
| ENST00000645929.1:c.321A>C | ENSP00000494402.1:p.Pro107= | |
| ENST00000646063.1:c.1245A>C | ENSP00000496565.1:p.Pro415= | |
| ENST00000646340.1:c.1164A>C | ENSP00000496730.1:p.Pro388= | |
| ENST00000646647.2:c.1158A>C MANE Select | ENSP00000495240.1:p.Pro386= | |
| ENST00000399982.6:c.1158A>C | ENSP00000382863.2:p.Pro386= | |
| ENST00000430710.7:c.321A>C | ENSP00000406288.3:p.Pro107= | |
| ENST00000555962.5:n.150+2790A>C | ||
| ENST00000557364.5:c.1158A>C | ENSP00000451601.1:p.Pro386= | |
| NM_001170629.1:c.1158A>C | NP_001164100.1:p.Pro386= | |
| NM_020920.3:c.321A>C | NP_065971.2:p.Pro107= | |
| NM_001170629.2:c.1158A>C MANE Select | NP_001164100.1:p.Pro386= | |
| NM_020920.4:c.321A>C | NP_065971.2:p.Pro107= |