Linked Data
ClinVar Variation Id:
242229
dbSNP Id:
rs200174990
ExAC:
5:1264593 C / T
gnomAD v2:
5-1264593-C-T
gnomAD v3:
5-1264478-C-T
gnomAD v4:
5-1264478-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1264478C>T , CM000667.2:g.1264478C>T | GRCh38 |
| NC_000005.9:g.1264593C>T , CM000667.1:g.1264593C>T | GRCh37 |
| NC_000005.8:g.1317593C>T | NCBI36 |
| NG_009265.1:g.35570G>A , LRG_343:g.35570G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2769G>A MANE Select | ENSP00000309572.5:p.Pro923= | |
| ENST00000656021.1:c.*2315G>A | ENSP00000499759.1:n.*2315G>A | |
| ENST00000667927.1:n.57G>A | ||
| ENST00000310581.9:c.2769G>A | ENSP00000309572.5:p.Pro923= | |
| ENST00000334602.10:c.2654+1986G>A | ENSP00000334346.6:n.2654+1986G>A | |
| ENST00000460137.6:c.2436+1986G>A | ENSP00000425003.1:n.2436+1986G>A | |
| ENST00000484238.6:n.1285+1986G>A | ||
| ENST00000503656.1:n.176G>A | ||
| NM_001193376.1:c.2654+1986G>A | NP_001180305.1:n.2654+1986G>A | |
| NM_198253.2:c.2769G>A , LRG_343t1:c.2769G>A | NP_937983.2:p.Pro923= | |
| XM_011514104.1:c.1239G>A | XP_011512406.1:p.Pro413= | |
| XM_011514105.1:c.1125G>A | XP_011512407.1:p.Pro375= | |
| XM_011514106.1:c.1125G>A | XP_011512408.1:p.Pro375= | |
| NR_149162.1:n.2530+1986G>A | ||
| NR_149163.1:n.2494+1986G>A | ||
| NM_001193376.2:c.2654+1986G>A | NP_001180305.1:n.2654+1986G>A | |
| NM_198253.3:c.2769G>A MANE Select | NP_937983.2:p.Pro923= | |
| NR_149162.2:n.2551+1986G>A | ||
| NR_149163.2:n.2515+1986G>A | ||
| NM_001193376.3:c.2654+1986G>A | NP_001180305.1:n.2654+1986G>A | |
| NR_149162.3:n.2551+1986G>A | ||
| NR_149163.3:n.2515+1986G>A |