Linked Data
ClinVar Variation Id:
2580903
ClinVar RCV Id:
RCV003330137
MyVariant Identifiers:
chr5:g.14401173G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14401064G>A , CM000667.2:g.14401064G>A | GRCh38 |
| NC_000005.9:g.14401173G>A , CM000667.1:g.14401173G>A | GRCh37 |
| NC_000005.8:g.14454173G>A | NCBI36 |
| NG_052962.1:g.262363G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698541.1:c.4716G>A | ENSP00000513786.1:p.Lys1572= | |
| ENST00000344204.9:c.4716G>A MANE Select | ENSP00000339299.4:p.Lys1572= | |
| ENST00000344204.8:c.4716G>A | ENSP00000339299.4:p.Lys1572= | |
| ENST00000509354.1:n.149G>A | ||
| ENST00000512070.6:c.4539G>A | ENSP00000421555.2:p.Lys1513= | |
| ENST00000513206.5:c.3915G>A | ENSP00000426342.2:p.Lys1305= | |
| ENST00000515144.5:n.3634G>A | ||
| NM_007118.2:c.4716G>A | NP_009049.2:p.Lys1572= | |
| XM_011514107.1:c.4653G>A | XP_011512409.1:p.Lys1551= | |
| XM_011514108.1:c.4599G>A | XP_011512410.1:p.Lys1533= | |
| XM_011514109.1:c.4569G>A | XP_011512411.1:p.Lys1523= | |
| XM_011514110.1:c.4539G>A | XP_011512412.1:p.Lys1513= | |
| XM_011514111.1:c.4539G>A | XP_011512413.1:p.Lys1513= | |
| XM_011514112.1:c.3261G>A | XP_011512414.1:p.Lys1087= | |
| XM_011514113.1:c.4716G>A | XP_011512415.1:p.Lys1572= | |
| XR_241714.1:n.4734G>A | ||
| NM_007118.3:c.4716G>A | NP_009049.2:p.Lys1572= | |
| NR_134469.1:n.4740G>A | ||
| XM_011514107.2:c.4653G>A | XP_011512409.1:p.Lys1551= | |
| XM_011514109.3:c.4569G>A | XP_011512411.1:p.Lys1523= | |
| XM_011514110.3:c.4539G>A | XP_011512412.1:p.Lys1513= | |
| XM_017009801.1:c.4716G>A | XP_016865290.1:p.Lys1572= | |
| XM_017009802.1:c.4716G>A | XP_016865291.1:p.Lys1572= | |
| XM_017009803.1:c.3261G>A | XP_016865292.1:p.Lys1087= | |
| XR_001742236.2:n.5092G>A | ||
| NM_007118.4:c.4716G>A MANE Select | NP_009049.2:p.Lys1572= | |
| NR_134469.2:n.5100G>A |