Linked Data
dbSNP Id:
rs753319196
ExAC:
4:23815707 C / G
gnomAD v2:
4-23815707-C-G
gnomAD v3:
4-23814084-C-G
gnomAD v4:
4-23814084-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23814084C>G , CM000666.2:g.23814084C>G | GRCh38 |
| NC_000004.11:g.23815707C>G , CM000666.1:g.23815707C>G | GRCh37 |
| NC_000004.10:g.23424805C>G | NCBI36 |
| NG_028250.1:g.80994G>C | |
| NG_028250.2:g.663892G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.1399G>C MANE Select | ENSP00000264867.2:p.Gly467Arg | |
| ENST00000264867.6:c.1399G>C | ENSP00000264867.2:p.Gly467Arg | |
| ENST00000506055.5:c.*614G>C | ENSP00000423075.1:n.*614G>C | |
| ENST00000509702.5:n.1439G>C | ||
| ENST00000613098.4:c.1018G>C | ENSP00000481498.1:p.Gly340Arg | |
| NM_013261.3:c.1399G>C | NP_037393.1:p.Gly467Arg | |
| XM_005248130.2:c.1414G>C | XP_005248187.1:p.Gly472Arg | |
| XM_005248131.3:c.1411G>C | XP_005248188.1:p.Gly471Arg | |
| XM_005248132.1:c.1390G>C | XP_005248189.1:p.Gly464Arg | |
| XM_005248134.3:c.1414G>C | XP_005248191.1:p.Gly472Arg | |
| XM_011513764.1:c.1399G>C | XP_011512066.1:p.Gly467Arg | |
| XM_011513765.1:c.1363G>C | XP_011512067.1:p.Gly455Arg | |
| XM_011513766.1:c.1294G>C | XP_011512068.1:p.Gly432Arg | |
| XM_011513767.1:c.1294G>C | XP_011512069.1:p.Gly432Arg | |
| XM_011513768.1:c.1294G>C | XP_011512070.1:p.Gly432Arg | |
| XM_011513769.1:c.1414G>C | XP_011512071.1:p.Gly472Arg | |
| XM_011513770.1:c.1018G>C | XP_011512072.1:p.Gly340Arg | |
| XM_011513771.1:c.1018G>C | XP_011512073.1:p.Gly340Arg | |
| NM_001330751.1:c.1414G>C | NP_001317680.1:p.Gly472Arg | |
| NM_001330752.1:c.1363G>C | NP_001317681.1:p.Gly455Arg | |
| NM_001330753.1:c.1018G>C | NP_001317682.1:p.Gly340Arg | |
| NM_001354825.1:c.1414G>C | NP_001341754.1:p.Gly472Arg | |
| NM_001354826.1:c.1018G>C | NP_001341755.1:p.Gly340Arg | |
| NM_001354827.1:c.1414G>C | NP_001341756.1:p.Gly472Arg | |
| NM_013261.4:c.1399G>C | NP_037393.1:p.Gly467Arg | |
| NR_148981.1:n.1926G>C | ||
| NR_148982.1:n.1999G>C | ||
| NR_148983.1:n.2152G>C | ||
| NR_148984.1:n.1550G>C | ||
| NR_148985.1:n.2064G>C | ||
| NR_148986.1:n.2069G>C | ||
| NR_148987.1:n.2151G>C | ||
| XM_005248131.5:c.1411G>C | XP_005248188.1:p.Gly471Arg | |
| XM_005248134.4:c.1414G>C | XP_005248191.1:p.Gly472Arg | |
| XM_011513769.2:c.1414G>C | XP_011512071.1:p.Gly472Arg | |
| XM_024453878.1:c.1414G>C | XP_024309646.1:p.Gly472Arg | |
| NM_013261.5:c.1399G>C MANE Select | NP_037393.1:p.Gly467Arg | |
| NM_001330751.2:c.1414G>C | NP_001317680.1:p.Gly472Arg | |
| NM_001330752.2:c.1363G>C | NP_001317681.1:p.Gly455Arg | |
| NM_001354825.2:c.1414G>C | NP_001341754.1:p.Gly472Arg | |
| NM_001354826.2:c.1018G>C | NP_001341755.1:p.Gly340Arg | |
| NM_001354827.2:c.1414G>C | NP_001341756.1:p.Gly472Arg | |
| NR_148981.2:n.2002G>C | ||
| NR_148982.2:n.2075G>C | ||
| NR_148983.2:n.2228G>C | ||
| NR_148984.2:n.1520G>C | ||
| NR_148985.2:n.2140G>C | ||
| NR_148986.2:n.2145G>C | ||
| NR_148987.2:n.2227G>C | ||
| NM_001330753.2:c.1018G>C | NP_001317682.1:p.Gly340Arg |