Linked Data
dbSNP Id:
rs777545886
ExAC:
4:23815726 G / A
gnomAD v2:
4-23815726-G-A
gnomAD v3:
4-23814103-G-A
gnomAD v4:
4-23814103-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23814103G>A , CM000666.2:g.23814103G>A | GRCh38 |
| NC_000004.11:g.23815726G>A , CM000666.1:g.23815726G>A | GRCh37 |
| NC_000004.10:g.23424824G>A | NCBI36 |
| NG_028250.1:g.80975C>T | |
| NG_028250.2:g.663873C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.1380C>T MANE Select | ENSP00000264867.2:p.Ala460= | |
| ENST00000264867.6:c.1380C>T | ENSP00000264867.2:p.Ala460= | |
| ENST00000506055.5:c.*595C>T | ENSP00000423075.1:n.*595C>T | |
| ENST00000509702.5:n.1420C>T | ||
| ENST00000613098.4:c.999C>T | ENSP00000481498.1:p.Ala333= | |
| NM_013261.3:c.1380C>T | NP_037393.1:p.Ala460= | |
| XM_005248130.2:c.1395C>T | XP_005248187.1:p.Ala465= | |
| XM_005248131.3:c.1392C>T | XP_005248188.1:p.Ala464= | |
| XM_005248132.1:c.1371C>T | XP_005248189.1:p.Ala457= | |
| XM_005248134.3:c.1395C>T | XP_005248191.1:p.Ala465= | |
| XM_011513764.1:c.1380C>T | XP_011512066.1:p.Ala460= | |
| XM_011513765.1:c.1344C>T | XP_011512067.1:p.Ala448= | |
| XM_011513766.1:c.1275C>T | XP_011512068.1:p.Ala425= | |
| XM_011513767.1:c.1275C>T | XP_011512069.1:p.Ala425= | |
| XM_011513768.1:c.1275C>T | XP_011512070.1:p.Ala425= | |
| XM_011513769.1:c.1395C>T | XP_011512071.1:p.Ala465= | |
| XM_011513770.1:c.999C>T | XP_011512072.1:p.Ala333= | |
| XM_011513771.1:c.999C>T | XP_011512073.1:p.Ala333= | |
| NM_001330751.1:c.1395C>T | NP_001317680.1:p.Ala465= | |
| NM_001330752.1:c.1344C>T | NP_001317681.1:p.Ala448= | |
| NM_001330753.1:c.999C>T | NP_001317682.1:p.Ala333= | |
| NM_001354825.1:c.1395C>T | NP_001341754.1:p.Ala465= | |
| NM_001354826.1:c.999C>T | NP_001341755.1:p.Ala333= | |
| NM_001354827.1:c.1395C>T | NP_001341756.1:p.Ala465= | |
| NM_013261.4:c.1380C>T | NP_037393.1:p.Ala460= | |
| NR_148981.1:n.1907C>T | ||
| NR_148982.1:n.1980C>T | ||
| NR_148983.1:n.2133C>T | ||
| NR_148984.1:n.1531C>T | ||
| NR_148985.1:n.2045C>T | ||
| NR_148986.1:n.2050C>T | ||
| NR_148987.1:n.2132C>T | ||
| XM_005248131.5:c.1392C>T | XP_005248188.1:p.Ala464= | |
| XM_005248134.4:c.1395C>T | XP_005248191.1:p.Ala465= | |
| XM_011513769.2:c.1395C>T | XP_011512071.1:p.Ala465= | |
| XM_024453878.1:c.1395C>T | XP_024309646.1:p.Ala465= | |
| NM_013261.5:c.1380C>T MANE Select | NP_037393.1:p.Ala460= | |
| NM_001330751.2:c.1395C>T | NP_001317680.1:p.Ala465= | |
| NM_001330752.2:c.1344C>T | NP_001317681.1:p.Ala448= | |
| NM_001354825.2:c.1395C>T | NP_001341754.1:p.Ala465= | |
| NM_001354826.2:c.999C>T | NP_001341755.1:p.Ala333= | |
| NM_001354827.2:c.1395C>T | NP_001341756.1:p.Ala465= | |
| NR_148981.2:n.1983C>T | ||
| NR_148982.2:n.2056C>T | ||
| NR_148983.2:n.2209C>T | ||
| NR_148984.2:n.1501C>T | ||
| NR_148985.2:n.2121C>T | ||
| NR_148986.2:n.2126C>T | ||
| NR_148987.2:n.2208C>T | ||
| NM_001330753.2:c.999C>T | NP_001317682.1:p.Ala333= |