Linked Data
ClinVar Variation Id:
2953418
ClinVar RCV Id:
RCV003810536
MyVariant Identifiers:
chr1:g.6528160T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6468100T>G , CM000663.2:g.6468100T>G | GRCh38 |
| NC_000001.10:g.6528160T>G , CM000663.1:g.6528160T>G | GRCh37 |
| NC_000001.9:g.6450747T>G | NCBI36 |
| NG_007978.1:g.56910A>C , LRG_262:g.56910A>C | |
| NG_029910.1:g.3096A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.2736A>C | ENSP00000344570.5:p.Pro912= | |
| ENST00000377728.8:c.2736A>C MANE Select | ENSP00000366957.3:p.Pro912= | |
| ENST00000377740.5:c.2736A>C | ENSP00000366969.4:p.Pro912= | |
| ENST00000377748.6:c.2910A>C | ENSP00000366977.2:p.Pro970= | |
| ENST00000400913.6:c.2736A>C | ENSP00000383704.1:p.Pro912= | |
| ENST00000400915.8:c.2847A>C | ENSP00000383706.4:p.Pro949= | |
| ENST00000489097.6:n.3212A>C | ||
| ENST00000535355.6:c.2943A>C | ENSP00000441445.1:p.Pro981= | |
| ENST00000537245.6:c.2847A>C | ENSP00000439625.2:p.Pro949= | |
| ENST00000673471.2:c.3033A>C | ENSP00000500749.1:p.Pro1011= | |
| ENST00000674790.1:c.*2948A>C | ENSP00000502815.1:n.*2948A>C | |
| ENST00000675123.1:c.2250-207A>C | ENSP00000502132.1:n.2250-207A>C | |
| ENST00000675548.1:c.*2564A>C | ENSP00000502684.1:n.*2564A>C | |
| ENST00000675694.1:c.2736A>C | ENSP00000501925.1:p.Pro912= | |
| ENST00000675976.1:c.609A>C | ENSP00000501611.1:p.Pro203= | |
| ENST00000340850.9:c.2736A>C | ENSP00000344570.5:p.Pro912= | |
| ENST00000377725.5:c.2736A>C | ENSP00000366954.1:p.Pro912= | |
| ENST00000377728.7:c.2736A>C | ENSP00000366957.3:p.Pro912= | |
| ENST00000377732.5:c.2847A>C | ENSP00000366961.1:p.Pro949= | |
| ENST00000377740.4:c.2481-207A>C | ENSP00000366969.3:n.2481-207A>C | |
| ENST00000377748.5:c.2967A>C | ENSP00000366977.1:p.Pro989= | |
| ENST00000400913.5:c.2736A>C | ENSP00000383704.1:p.Pro912= | |
| ENST00000400915.7:c.2904A>C | ENSP00000383706.3:p.Pro968= | |
| ENST00000487949.4:n.1938A>C | ||
| ENST00000489097.5:n.3212A>C | ||
| ENST00000535355.5:c.2943A>C | ENSP00000441445.1:p.Pro981= | |
| ENST00000537245.5:c.2973A>C | ENSP00000439625.1:p.Pro991= | |
| NM_001042663.1:c.2904A>C | NP_001036128.1:p.Pro968= | |
| NM_001042664.1:c.2736A>C | NP_001036129.1:p.Pro912= | |
| NM_001042665.1:c.2736A>C | NP_001036130.1:p.Pro912= | |
| NM_001265592.1:c.2973A>C | NP_001252521.1:p.Pro991= | |
| NM_001265593.1:c.2943A>C | NP_001252522.1:p.Pro981= | |
| NM_001265594.1:c.2736A>C | NP_001252523.1:p.Pro912= | |
| NM_020631.4:c.2736A>C | NP_065682.2:p.Pro912= | |
| NM_198681.3:c.2967A>C | NP_941374.2:p.Pro989= | |
| NM_001042663.2:c.2904A>C | NP_001036128.1:p.Pro968= | |
| NM_001265594.2:c.2736A>C | NP_001252523.1:p.Pro912= | |
| NM_020631.5:c.2736A>C | NP_065682.2:p.Pro912= | |
| NM_001042663.3:c.2847A>C | NP_001036128.2:p.Pro949= | |
| NM_001265592.2:c.2847A>C | NP_001252521.2:p.Pro949= | |
| NM_020631.6:c.2736A>C MANE Select | NP_065682.2:p.Pro912= | |
| NM_198681.4:c.2736A>C | NP_941374.3:p.Pro912= |