Linked Data
dbSNP Id:
rs747933720
ExAC:
4:23815643 T / C
gnomAD v2:
4-23815643-T-C
gnomAD v3:
4-23814020-T-C
gnomAD v4:
4-23814020-T-C
COSMIC:
COSM1581512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23814020T>C , CM000666.2:g.23814020T>C | GRCh38 |
| NC_000004.11:g.23815643T>C , CM000666.1:g.23815643T>C | GRCh37 |
| NC_000004.10:g.23424741T>C | NCBI36 |
| NG_028250.1:g.81058A>G | |
| NG_028250.2:g.663956A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.1463A>G MANE Select | ENSP00000264867.2:p.Asp488Gly | |
| ENST00000264867.6:c.1463A>G | ENSP00000264867.2:p.Asp488Gly | |
| ENST00000506055.5:c.*678A>G | ENSP00000423075.1:n.*678A>G | |
| ENST00000509702.5:n.1503A>G | ||
| ENST00000613098.4:c.1082A>G | ENSP00000481498.1:p.Asp361Gly | |
| NM_013261.3:c.1463A>G | NP_037393.1:p.Asp488Gly | |
| XM_005248130.2:c.1478A>G | XP_005248187.1:p.Asp493Gly | |
| XM_005248131.3:c.1475A>G | XP_005248188.1:p.Asp492Gly | |
| XM_005248132.1:c.1454A>G | XP_005248189.1:p.Asp485Gly | |
| XM_005248134.3:c.1478A>G | XP_005248191.1:p.Asp493Gly | |
| XM_011513764.1:c.1463A>G | XP_011512066.1:p.Asp488Gly | |
| XM_011513765.1:c.1427A>G | XP_011512067.1:p.Asp476Gly | |
| XM_011513766.1:c.1358A>G | XP_011512068.1:p.Asp453Gly | |
| XM_011513767.1:c.1358A>G | XP_011512069.1:p.Asp453Gly | |
| XM_011513768.1:c.1358A>G | XP_011512070.1:p.Asp453Gly | |
| XM_011513769.1:c.1478A>G | XP_011512071.1:p.Asp493Gly | |
| XM_011513770.1:c.1082A>G | XP_011512072.1:p.Asp361Gly | |
| XM_011513771.1:c.1082A>G | XP_011512073.1:p.Asp361Gly | |
| NM_001330751.1:c.1478A>G | NP_001317680.1:p.Asp493Gly | |
| NM_001330752.1:c.1427A>G | NP_001317681.1:p.Asp476Gly | |
| NM_001330753.1:c.1082A>G | NP_001317682.1:p.Asp361Gly | |
| NM_001354825.1:c.1478A>G | NP_001341754.1:p.Asp493Gly | |
| NM_001354826.1:c.1082A>G | NP_001341755.1:p.Asp361Gly | |
| NM_001354827.1:c.1478A>G | NP_001341756.1:p.Asp493Gly | |
| NM_013261.4:c.1463A>G | NP_037393.1:p.Asp488Gly | |
| NR_148981.1:n.1990A>G | ||
| NR_148982.1:n.2063A>G | ||
| NR_148983.1:n.2216A>G | ||
| NR_148984.1:n.1614A>G | ||
| NR_148985.1:n.2128A>G | ||
| NR_148986.1:n.2133A>G | ||
| NR_148987.1:n.2215A>G | ||
| XM_005248131.5:c.1475A>G | XP_005248188.1:p.Asp492Gly | |
| XM_005248134.4:c.1478A>G | XP_005248191.1:p.Asp493Gly | |
| XM_011513769.2:c.1478A>G | XP_011512071.1:p.Asp493Gly | |
| XM_024453878.1:c.1478A>G | XP_024309646.1:p.Asp493Gly | |
| NM_013261.5:c.1463A>G MANE Select | NP_037393.1:p.Asp488Gly | |
| NM_001330751.2:c.1478A>G | NP_001317680.1:p.Asp493Gly | |
| NM_001330752.2:c.1427A>G | NP_001317681.1:p.Asp476Gly | |
| NM_001354825.2:c.1478A>G | NP_001341754.1:p.Asp493Gly | |
| NM_001354826.2:c.1082A>G | NP_001341755.1:p.Asp361Gly | |
| NM_001354827.2:c.1478A>G | NP_001341756.1:p.Asp493Gly | |
| NR_148981.2:n.2066A>G | ||
| NR_148982.2:n.2139A>G | ||
| NR_148983.2:n.2292A>G | ||
| NR_148984.2:n.1584A>G | ||
| NR_148985.2:n.2204A>G | ||
| NR_148986.2:n.2209A>G | ||
| NR_148987.2:n.2291A>G | ||
| NM_001330753.2:c.1082A>G | NP_001317682.1:p.Asp361Gly |