Linked Data
ClinVar Variation Id:
3037609
ClinVar RCV Id:
RCV003917003
dbSNP Id:
rs17574213
ExAC:
4:23815681 G / A
gnomAD v2:
4-23815681-G-A
gnomAD v3:
4-23814058-G-A
gnomAD v4:
4-23814058-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23814058G>A , CM000666.2:g.23814058G>A | GRCh38 |
| NC_000004.11:g.23815681G>A , CM000666.1:g.23815681G>A | GRCh37 |
| NC_000004.10:g.23424779G>A | NCBI36 |
| NG_028250.1:g.81020C>T | |
| NG_028250.2:g.663918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.1425C>T MANE Select | ENSP00000264867.2:p.Asp475= | |
| ENST00000264867.6:c.1425C>T | ENSP00000264867.2:p.Asp475= | |
| ENST00000506055.5:c.*640C>T | ENSP00000423075.1:n.*640C>T | |
| ENST00000509702.5:n.1465C>T | ||
| ENST00000613098.4:c.1044C>T | ENSP00000481498.1:p.Asp348= | |
| NM_013261.3:c.1425C>T | NP_037393.1:p.Asp475= | |
| XM_005248130.2:c.1440C>T | XP_005248187.1:p.Asp480= | |
| XM_005248131.3:c.1437C>T | XP_005248188.1:p.Asp479= | |
| XM_005248132.1:c.1416C>T | XP_005248189.1:p.Asp472= | |
| XM_005248134.3:c.1440C>T | XP_005248191.1:p.Asp480= | |
| XM_011513764.1:c.1425C>T | XP_011512066.1:p.Asp475= | |
| XM_011513765.1:c.1389C>T | XP_011512067.1:p.Asp463= | |
| XM_011513766.1:c.1320C>T | XP_011512068.1:p.Asp440= | |
| XM_011513767.1:c.1320C>T | XP_011512069.1:p.Asp440= | |
| XM_011513768.1:c.1320C>T | XP_011512070.1:p.Asp440= | |
| XM_011513769.1:c.1440C>T | XP_011512071.1:p.Asp480= | |
| XM_011513770.1:c.1044C>T | XP_011512072.1:p.Asp348= | |
| XM_011513771.1:c.1044C>T | XP_011512073.1:p.Asp348= | |
| NM_001330751.1:c.1440C>T | NP_001317680.1:p.Asp480= | |
| NM_001330752.1:c.1389C>T | NP_001317681.1:p.Asp463= | |
| NM_001330753.1:c.1044C>T | NP_001317682.1:p.Asp348= | |
| NM_001354825.1:c.1440C>T | NP_001341754.1:p.Asp480= | |
| NM_001354826.1:c.1044C>T | NP_001341755.1:p.Asp348= | |
| NM_001354827.1:c.1440C>T | NP_001341756.1:p.Asp480= | |
| NM_013261.4:c.1425C>T | NP_037393.1:p.Asp475= | |
| NR_148981.1:n.1952C>T | ||
| NR_148982.1:n.2025C>T | ||
| NR_148983.1:n.2178C>T | ||
| NR_148984.1:n.1576C>T | ||
| NR_148985.1:n.2090C>T | ||
| NR_148986.1:n.2095C>T | ||
| NR_148987.1:n.2177C>T | ||
| XM_005248131.5:c.1437C>T | XP_005248188.1:p.Asp479= | |
| XM_005248134.4:c.1440C>T | XP_005248191.1:p.Asp480= | |
| XM_011513769.2:c.1440C>T | XP_011512071.1:p.Asp480= | |
| XM_024453878.1:c.1440C>T | XP_024309646.1:p.Asp480= | |
| NM_013261.5:c.1425C>T MANE Select | NP_037393.1:p.Asp475= | |
| NM_001330751.2:c.1440C>T | NP_001317680.1:p.Asp480= | |
| NM_001330752.2:c.1389C>T | NP_001317681.1:p.Asp463= | |
| NM_001354825.2:c.1440C>T | NP_001341754.1:p.Asp480= | |
| NM_001354826.2:c.1044C>T | NP_001341755.1:p.Asp348= | |
| NM_001354827.2:c.1440C>T | NP_001341756.1:p.Asp480= | |
| NR_148981.2:n.2028C>T | ||
| NR_148982.2:n.2101C>T | ||
| NR_148983.2:n.2254C>T | ||
| NR_148984.2:n.1546C>T | ||
| NR_148985.2:n.2166C>T | ||
| NR_148986.2:n.2171C>T | ||
| NR_148987.2:n.2253C>T | ||
| NM_001330753.2:c.1044C>T | NP_001317682.1:p.Asp348= |