Linked Data
ClinVar Variation Id:
225639
ClinVar RCV Id:
RCV000210941
dbSNP Id:
rs869320773
gnomAD v4:
4-527231-G-C
PubMed:
PMID:26996948
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.527231G>C , CM000666.2:g.527231G>C | GRCh38 |
| NC_000004.11:g.521020G>C , CM000666.1:g.521020G>C | GRCh37 |
| NC_000004.10:g.511020G>C | NCBI36 |
| NG_051621.1:g.33032G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453061.7:c.2261+1G>C MANE Select | ENSP00000415203.2:n.2261+1G>C | |
| ENST00000310340.9:c.2237+1G>C | ENSP00000311750.5:n.2237+1G>C | |
| ENST00000383028.8:c.1862+1G>C | ENSP00000372494.4:n.1862+1G>C | |
| ENST00000453061.6:c.2261+1G>C | ENSP00000415203.2:n.2261+1G>C | |
| ENST00000503261.5:n.462+1G>C | ||
| ENST00000504346.5:c.1994+1G>C | ENSP00000424800.1:n.1994+1G>C | |
| ENST00000508562.1:n.508-3205G>C | ||
| ENST00000508669.1:n.275G>C | ||
| ENST00000510235.1:c.-218+1G>C | ENSP00000422410.1:n.-218+1G>C | |
| ENST00000511666.5:n.281+1G>C | ||
| NM_001127178.2:c.2261+1G>C | NP_001120650.1:n.2261+1G>C | |
| NM_001289051.1:c.1994+1G>C | NP_001275980.1:n.1994+1G>C | |
| NM_001289052.1:c.1862+1G>C | NP_001275981.1:n.1862+1G>C | |
| NM_017733.4:c.2237+1G>C | NP_060203.3:n.2237+1G>C | |
| NR_110293.1:n.2351+1G>C | ||
| XM_005272283.2:c.2051+1G>C | XP_005272340.1:n.2051+1G>C | |
| XM_005272284.2:c.1994+1G>C | XP_005272341.1:n.1994+1G>C | |
| XM_005272288.3:c.*140G>C | XP_005272345.1:n.*140G>C | |
| XM_011513490.1:c.2261+1G>C | XP_011511792.1:n.2261+1G>C | |
| XM_011513491.1:c.1895+1G>C | XP_011511793.1:n.1895+1G>C | |
| XM_011513492.1:c.1187+1G>C | XP_011511794.1:n.1187+1G>C | |
| XR_924963.1:n.2397+1G>C | ||
| XR_924965.1:n.2397+1G>C | ||
| XR_924966.1:n.2397+1G>C | ||
| XR_924967.1:n.2398G>C | ||
| XR_924968.1:n.3064+1G>C | ||
| XR_924969.1:n.2861+1G>C | ||
| XR_924971.1:n.2802+1G>C | ||
| XR_924972.1:n.2135+1G>C | ||
| NM_001345986.1:c.1994+1G>C | NP_001332915.1:n.1994+1G>C | |
| NM_001345987.1:c.1970+1G>C | NP_001332916.1:n.1970+1G>C | |
| NM_001345988.1:c.1232+1G>C | NP_001332917.1:n.1232+1G>C | |
| NM_001345990.1:c.728+1G>C | NP_001332919.1:n.728+1G>C | |
| NM_001345991.1:c.728+1G>C | NP_001332920.1:n.728+1G>C | |
| NM_001345994.1:c.1163+1G>C | NP_001332923.1:n.1163+1G>C | |
| NR_144326.1:n.2633+1G>C | ||
| NR_144327.1:n.2398G>C | ||
| NR_144328.1:n.2820+1G>C | ||
| NR_144329.1:n.2325+1G>C | ||
| NR_144330.1:n.2397+1G>C | ||
| NR_144331.1:n.2633+1G>C | ||
| NR_144332.1:n.1942+1G>C | ||
| NR_144333.1:n.1942+1G>C | ||
| NR_144334.1:n.2132+1G>C | ||
| XM_011513490.3:c.2261+1G>C | XP_011511792.1:n.2261+1G>C | |
| XM_011513491.2:c.1895+1G>C | XP_011511793.1:n.1895+1G>C | |
| XR_001741248.2:n.2373+1G>C | ||
| XR_001741251.2:n.3040+1G>C | ||
| XR_001741253.2:n.2778+1G>C | ||
| XR_001741254.2:n.2112G>C | ||
| XR_001741255.2:n.2111+1G>C | ||
| XR_001741258.2:n.1947+1G>C | ||
| XR_001741261.2:n.1873G>C | ||
| XR_001741262.2:n.2225+1G>C | ||
| XR_002959736.1:n.4297+1G>C | ||
| XR_002959737.1:n.3920G>C | ||
| XR_002959738.1:n.3845G>C | ||
| XR_924965.3:n.2373+1G>C | ||
| XR_924967.3:n.2374G>C | ||
| XR_924969.3:n.2837+1G>C | ||
| XR_924972.3:n.2111+1G>C | ||
| NM_001127178.3:c.2261+1G>C MANE Select | NP_001120650.1:n.2261+1G>C | |
| NM_001289051.2:c.1994+1G>C | NP_001275980.1:n.1994+1G>C | |
| NM_001289052.2:c.1862+1G>C | NP_001275981.1:n.1862+1G>C | |
| NM_001345986.2:c.1994+1G>C | NP_001332915.1:n.1994+1G>C | |
| NM_001345987.2:c.1970+1G>C | NP_001332916.1:n.1970+1G>C | |
| NM_001345988.2:c.1232+1G>C | NP_001332917.1:n.1232+1G>C | |
| NM_001345990.2:c.728+1G>C | NP_001332919.1:n.728+1G>C | |
| NM_001345991.2:c.728+1G>C | NP_001332920.1:n.728+1G>C | |
| NM_001345994.2:c.1163+1G>C | NP_001332923.1:n.1163+1G>C | |
| NM_017733.5:c.2237+1G>C | NP_060203.3:n.2237+1G>C | |
| NR_110293.2:n.2341+1G>C | ||
| NR_144326.2:n.2623+1G>C | ||
| NR_144327.2:n.2388G>C | ||
| NR_144328.2:n.2810+1G>C | ||
| NR_144329.2:n.2315+1G>C | ||
| NR_144330.2:n.2387+1G>C | ||
| NR_144331.2:n.2623+1G>C | ||
| NR_144332.2:n.1932+1G>C | ||
| NR_144333.2:n.1932+1G>C | ||
| NR_144334.2:n.2122+1G>C |