gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23805155C>G , CM000666.2:g.23805155C>G | GRCh38 |
| NC_000004.11:g.23806778C>G , CM000666.1:g.23806778C>G | GRCh37 |
| NC_000004.10:g.23415876C>G | NCBI36 |
| NG_028250.1:g.89923G>C | |
| NG_028250.2:g.672821G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.2020-2810G>C MANE Select | ENSP00000264867.2:n.2020-2810G>C | |
| ENST00000264867.6:c.2020-2810G>C | ENSP00000264867.2:n.2020-2810G>C | |
| ENST00000506055.5:c.*1235-2810G>C | ENSP00000423075.1:n.*1235-2810G>C | |
| ENST00000509702.5:n.2060-2810G>C | ||
| ENST00000613098.4:c.1639-2810G>C | ENSP00000481498.1:n.1639-2810G>C | |
| NM_013261.3:c.2020-2810G>C | NP_037393.1:n.2020-2810G>C | |
| XM_005248130.2:c.2035-2810G>C | XP_005248187.1:n.2035-2810G>C | |
| XM_005248131.3:c.2032-2810G>C | XP_005248188.1:n.2032-2810G>C | |
| XM_005248132.1:c.2011-2810G>C | XP_005248189.1:n.2011-2810G>C | |
| XM_005248134.3:c.2034+7592G>C | XP_005248191.1:n.2034+7592G>C | |
| XM_011513764.1:c.2020-2810G>C | XP_011512066.1:n.2020-2810G>C | |
| XM_011513765.1:c.1984-2810G>C | XP_011512067.1:n.1984-2810G>C | |
| XM_011513766.1:c.1915-2810G>C | XP_011512068.1:n.1915-2810G>C | |
| XM_011513767.1:c.1915-2810G>C | XP_011512069.1:n.1915-2810G>C | |
| XM_011513768.1:c.1915-2810G>C | XP_011512070.1:n.1915-2810G>C | |
| XM_011513770.1:c.1639-2810G>C | XP_011512072.1:n.1639-2810G>C | |
| XM_011513771.1:c.1639-2810G>C | XP_011512073.1:n.1639-2810G>C | |
| NM_001330751.1:c.2035-2810G>C | NP_001317680.1:n.2035-2810G>C | |
| NM_001330752.1:c.1984-2810G>C | NP_001317681.1:n.1984-2810G>C | |
| NM_001330753.1:c.1639-2810G>C | NP_001317682.1:n.1639-2810G>C | |
| NM_001354825.1:c.2035-2810G>C | NP_001341754.1:n.2035-2810G>C | |
| NM_001354826.1:c.1639-2810G>C | NP_001341755.1:n.1639-2810G>C | |
| NM_001354827.1:c.2035-2810G>C | NP_001341756.1:n.2035-2810G>C | |
| NM_013261.4:c.2020-2810G>C | NP_037393.1:n.2020-2810G>C | |
| NR_148981.1:n.2547-2810G>C | ||
| NR_148982.1:n.2620-2810G>C | ||
| NR_148983.1:n.2773-2810G>C | ||
| NR_148984.1:n.2171-2810G>C | ||
| NR_148985.1:n.2685-2810G>C | ||
| NR_148986.1:n.2690-2810G>C | ||
| NR_148987.1:n.2772-2810G>C | ||
| XM_005248131.5:c.2032-2810G>C | XP_005248188.1:n.2032-2810G>C | |
| XM_005248134.4:c.2034+7592G>C | XP_005248191.1:n.2034+7592G>C | |
| XM_024453878.1:c.2035-2810G>C | XP_024309646.1:n.2035-2810G>C | |
| NM_013261.5:c.2020-2810G>C MANE Select | NP_037393.1:n.2020-2810G>C | |
| NM_001330751.2:c.2035-2810G>C | NP_001317680.1:n.2035-2810G>C | |
| NM_001330752.2:c.1984-2810G>C | NP_001317681.1:n.1984-2810G>C | |
| NM_001354825.2:c.2035-2810G>C | NP_001341754.1:n.2035-2810G>C | |
| NM_001354826.2:c.1639-2810G>C | NP_001341755.1:n.1639-2810G>C | |
| NM_001354827.2:c.2035-2810G>C | NP_001341756.1:n.2035-2810G>C | |
| NR_148981.2:n.2623-2810G>C | ||
| NR_148982.2:n.2696-2810G>C | ||
| NR_148983.2:n.2849-2810G>C | ||
| NR_148984.2:n.2141-2810G>C | ||
| NR_148985.2:n.2761-2810G>C | ||
| NR_148986.2:n.2766-2810G>C | ||
| NR_148987.2:n.2848-2810G>C | ||
| NM_001330753.2:c.1639-2810G>C | NP_001317682.1:n.1639-2810G>C |