Linked Data
ClinVar Variation Id:
2820867
ClinVar RCV Id:
RCV003709401
gnomAD v4:
11-67490333-T-C
MyVariant Identifiers:
chr11:g.67257804T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490333T>C , CM000673.2:g.67490333T>C | GRCh38 |
| NC_000011.9:g.67257804T>C , CM000673.1:g.67257804T>C | GRCh37 |
| NC_000011.8:g.67014380T>C | NCBI36 |
| NG_008969.1:g.12300T>C , LRG_460:g.12300T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.640T>C | ||
| ENST00000528641.7:c.474T>C | ENSP00000434982.3:p.Pro158= | |
| ENST00000529797.2:n.1175T>C | ||
| ENST00000682324.1:c.469-664T>C | ENSP00000508017.1:n.469-664T>C | |
| ENST00000682659.1:c.294T>C | ENSP00000507351.1:p.Pro98= | |
| ENST00000682699.1:c.663T>C | ENSP00000507935.1:p.Pro221= | |
| ENST00000683237.1:c.663T>C | ENSP00000507343.1:p.Pro221= | |
| ENST00000683856.1:c.486T>C | ENSP00000507979.1:p.Pro162= | |
| ENST00000684006.1:c.663T>C | ENSP00000507269.1:p.Pro221= | |
| ENST00000684657.1:c.483T>C | ENSP00000507961.1:p.Pro161= | |
| ENST00000279146.8:c.663T>C MANE Select | ENSP00000279146.3:p.Pro221= | |
| ENST00000279146.7:c.663T>C | ENSP00000279146.3:p.Pro221= | |
| ENST00000525341.1:c.315T>C | ENSP00000476993.1:p.Pro105= | |
| ENST00000528641.6:c.474T>C | ENSP00000434982.2:p.Pro158= | |
| NM_001302959.1:c.486T>C | NP_001289888.1:p.Pro162= | |
| NM_001302960.1:c.663T>C | NP_001289889.1:p.Pro221= | |
| NM_003977.3:c.663T>C | NP_003968.3:p.Pro221= | |
| XM_024448761.1:c.663T>C | XP_024304529.1:p.Pro221= | |
| NM_003977.4:c.663T>C MANE Select | NP_003968.3:p.Pro221= | |
| NM_001302960.2:c.663T>C | NP_001289889.1:p.Pro221= | |
| NM_001302959.2:c.486T>C | NP_001289888.1:p.Pro162= |