Linked Data
dbSNP Id:
rs2140674615
gnomAD v4:
15-66485076-G-A
MyVariant Identifiers:
chr15:g.66777414G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485076G>A , CM000677.2:g.66485076G>A | GRCh38 |
| NC_000015.9:g.66777414G>A , CM000677.1:g.66777414G>A | GRCh37 |
| NC_000015.8:g.64564468G>A | NCBI36 |
| NG_008305.1:g.103204G>A , LRG_725:g.103204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.628-2152G>A | ENSP00000508681.1:n.628-2152G>A | |
| ENST00000685172.1:c.780G>A | ENSP00000509604.1:p.Arg260= | |
| ENST00000685763.1:c.633G>A | ENSP00000509016.1:p.Arg211= | |
| ENST00000686347.1:c.569-2152G>A | ENSP00000509027.1:n.569-2152G>A | |
| ENST00000687191.1:n.1138G>A | ||
| ENST00000687481.1:n.195G>A | ||
| ENST00000689951.1:c.831G>A | ENSP00000509308.1:p.Arg277= | |
| ENST00000691077.1:c.*17G>A | ENSP00000509843.1:n.*17G>A | |
| ENST00000691576.1:c.651G>A | ENSP00000510066.1:p.Arg217= | |
| ENST00000691937.1:c.780G>A | ENSP00000508768.1:p.Arg260= | |
| ENST00000692487.1:c.*17G>A | ENSP00000509534.1:n.*17G>A | |
| ENST00000692683.1:c.714G>A | ENSP00000508437.1:p.Arg238= | |
| ENST00000693150.1:c.636G>A | ENSP00000510309.1:p.Arg212= | |
| ENST00000307102.10:c.780G>A MANE Select | ENSP00000302486.5:p.Arg260= | |
| ENST00000307102.9:c.780G>A | ENSP00000302486.4:p.Arg260= | |
| ENST00000566326.1:c.252G>A | ENSP00000456438.1:p.Arg84= | |
| NM_002755.3:c.780G>A , LRG_725t1:c.780G>A | NP_002746.1:p.Arg260= | |
| XM_011521783.1:c.714G>A | XP_011520085.1:p.Arg238= | |
| XM_011521783.3:c.714G>A | XP_011520085.1:p.Arg238= | |
| XM_017022411.2:c.702G>A | XP_016877900.1:p.Arg234= | |
| XM_017022412.1:c.636G>A | XP_016877901.1:p.Arg212= | |
| XM_017022413.1:c.252G>A | XP_016877902.1:p.Arg84= | |
| NM_002755.4:c.780G>A MANE Select | NP_002746.1:p.Arg260= |