Linked Data
ClinVar Variation Id:
3060597
ClinVar RCV Id:
RCV003984576
dbSNP Id:
rs8192678
ExAC:
4:23815662 C / T
gnomAD v2:
4-23815662-C-T
gnomAD v3:
4-23814039-C-T
gnomAD v4:
4-23814039-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23814039C>T , CM000666.2:g.23814039C>T | GRCh38 |
| NC_000004.11:g.23815662C>T , CM000666.1:g.23815662C>T | GRCh37 |
| NC_000004.10:g.23424760C>T | NCBI36 |
| NG_028250.1:g.81039G>A | |
| NG_028250.2:g.663937G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264867.7:c.1444G>A MANE Select | ENSP00000264867.2:p.Gly482Ser | |
| ENST00000264867.6:c.1444G>A | ENSP00000264867.2:p.Gly482Ser | |
| ENST00000506055.5:c.*659G>A | ENSP00000423075.1:n.*659G>A | |
| ENST00000509702.5:n.1484G>A | ||
| ENST00000613098.4:c.1063G>A | ENSP00000481498.1:p.Gly355Ser | |
| NM_013261.3:c.1444G>A | NP_037393.1:p.Gly482Ser | |
| XM_005248130.2:c.1459G>A | XP_005248187.1:p.Gly487Ser | |
| XM_005248131.3:c.1456G>A | XP_005248188.1:p.Gly486Ser | |
| XM_005248132.1:c.1435G>A | XP_005248189.1:p.Gly479Ser | |
| XM_005248134.3:c.1459G>A | XP_005248191.1:p.Gly487Ser | |
| XM_011513764.1:c.1444G>A | XP_011512066.1:p.Gly482Ser | |
| XM_011513765.1:c.1408G>A | XP_011512067.1:p.Gly470Ser | |
| XM_011513766.1:c.1339G>A | XP_011512068.1:p.Gly447Ser | |
| XM_011513767.1:c.1339G>A | XP_011512069.1:p.Gly447Ser | |
| XM_011513768.1:c.1339G>A | XP_011512070.1:p.Gly447Ser | |
| XM_011513769.1:c.1459G>A | XP_011512071.1:p.Gly487Ser | |
| XM_011513770.1:c.1063G>A | XP_011512072.1:p.Gly355Ser | |
| XM_011513771.1:c.1063G>A | XP_011512073.1:p.Gly355Ser | |
| NM_001330751.1:c.1459G>A | NP_001317680.1:p.Gly487Ser | |
| NM_001330752.1:c.1408G>A | NP_001317681.1:p.Gly470Ser | |
| NM_001330753.1:c.1063G>A | NP_001317682.1:p.Gly355Ser | |
| NM_001354825.1:c.1459G>A | NP_001341754.1:p.Gly487Ser | |
| NM_001354826.1:c.1063G>A | NP_001341755.1:p.Gly355Ser | |
| NM_001354827.1:c.1459G>A | NP_001341756.1:p.Gly487Ser | |
| NM_013261.4:c.1444G>A | NP_037393.1:p.Gly482Ser | |
| NR_148981.1:n.1971G>A | ||
| NR_148982.1:n.2044G>A | ||
| NR_148983.1:n.2197G>A | ||
| NR_148984.1:n.1595G>A | ||
| NR_148985.1:n.2109G>A | ||
| NR_148986.1:n.2114G>A | ||
| NR_148987.1:n.2196G>A | ||
| XM_005248131.5:c.1456G>A | XP_005248188.1:p.Gly486Ser | |
| XM_005248134.4:c.1459G>A | XP_005248191.1:p.Gly487Ser | |
| XM_011513769.2:c.1459G>A | XP_011512071.1:p.Gly487Ser | |
| XM_024453878.1:c.1459G>A | XP_024309646.1:p.Gly487Ser | |
| NM_013261.5:c.1444G>A MANE Select | NP_037393.1:p.Gly482Ser | |
| NM_001330751.2:c.1459G>A | NP_001317680.1:p.Gly487Ser | |
| NM_001330752.2:c.1408G>A | NP_001317681.1:p.Gly470Ser | |
| NM_001354825.2:c.1459G>A | NP_001341754.1:p.Gly487Ser | |
| NM_001354826.2:c.1063G>A | NP_001341755.1:p.Gly355Ser | |
| NM_001354827.2:c.1459G>A | NP_001341756.1:p.Gly487Ser | |
| NR_148981.2:n.2047G>A | ||
| NR_148982.2:n.2120G>A | ||
| NR_148983.2:n.2273G>A | ||
| NR_148984.2:n.1565G>A | ||
| NR_148985.2:n.2185G>A | ||
| NR_148986.2:n.2190G>A | ||
| NR_148987.2:n.2272G>A | ||
| NM_001330753.2:c.1063G>A | NP_001317682.1:p.Gly355Ser |