Linked Data
ClinVar Variation Id:
216978
ClinVar RCV Id:
RCV003231402
dbSNP Id:
rs863224905
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177269601G>C , CM000667.2:g.177269601G>C | GRCh38 |
| NC_000005.9:g.176696602G>C , CM000667.1:g.176696602G>C | GRCh37 |
| NC_000005.8:g.176629208G>C | NCBI36 |
| NG_009821.1:g.141523G>C , LRG_512:g.141523G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.4431-1G>C | ENSP00000423372.3:n.4431-1G>C | |
| ENST00000347982.9:c.4431-1G>C | ENSP00000343209.5:n.4431-1G>C | |
| ENST00000354179.9:c.4431-1G>C | ENSP00000346111.5:n.4431-1G>C | |
| ENST00000503056.6:c.-55-1G>C | ENSP00000424024.2:n.-55-1G>C | |
| ENST00000508029.6:c.-55-1G>C | ENSP00000425120.2:n.-55-1G>C | |
| ENST00000685206.1:n.4887-1G>C | ||
| ENST00000686993.1:c.4431-1G>C | ENSP00000510020.1:n.4431-1G>C | |
| ENST00000687095.1:n.258+1883G>C | ||
| ENST00000687453.1:c.4995-1G>C | ENSP00000508426.1:n.4995-1G>C | |
| ENST00000688613.1:n.4701-1G>C | ||
| ENST00000689345.1:c.4431-1G>C | ENSP00000509711.1:n.4431-1G>C | |
| ENST00000689549.1:n.5451-1G>C | ||
| ENST00000692024.1:n.2223-1G>C | ||
| ENST00000439151.7:c.5304-1G>C MANE Select | ENSP00000395929.2:n.5304-1G>C | |
| ENST00000347982.8:c.4497-1G>C | ENSP00000343209.4:n.4497-1G>C | |
| ENST00000354179.8:c.4497-1G>C | ENSP00000346111.4:n.4497-1G>C | |
| ENST00000439151.6:c.5304-1G>C | ENSP00000395929.2:n.5304-1G>C | |
| ENST00000503056.5:c.-55-1G>C | ENSP00000424024.1:n.-55-1G>C | |
| ENST00000504457.5:c.-55-1G>C | ENSP00000422996.1:n.-55-1G>C | |
| ENST00000505395.5:c.-55-1G>C | ENSP00000424096.1:n.-55-1G>C | |
| ENST00000508029.5:c.-55-1G>C | ENSP00000425120.1:n.-55-1G>C | |
| ENST00000515735.1:c.-55-1G>C | ENSP00000423048.1:n.-55-1G>C | |
| NM_022455.4:c.5304-1G>C , LRG_512t1:c.5304-1G>C | NP_071900.2:n.5304-1G>C | |
| NM_172349.2:c.4497-1G>C | NP_758859.1:n.4497-1G>C | |
| XM_005265959.1:c.5304-1G>C | XP_005266016.1:n.5304-1G>C | |
| XM_005265960.1:c.4497-1G>C | XP_005266017.1:n.4497-1G>C | |
| XM_005265961.1:c.4497-1G>C | XP_005266018.1:n.4497-1G>C | |
| XM_005265962.3:c.798-1G>C | XP_005266019.1:n.798-1G>C | |
| XM_011534610.1:c.5304-1G>C | XP_011532912.1:n.5304-1G>C | |
| XM_011534611.1:c.5304-1G>C | XP_011532913.1:n.5304-1G>C | |
| XM_011534612.1:c.4884-1G>C | XP_011532914.1:n.4884-1G>C | |
| XM_011534613.1:c.4248-1G>C | XP_011532915.1:n.4248-1G>C | |
| XM_011534617.1:c.1038-1G>C | XP_011532919.1:n.1038-1G>C | |
| NM_001365684.1:c.4497-1G>C | NP_001352613.1:n.4497-1G>C | |
| XM_024446150.1:c.5304-1G>C | XP_024301918.1:n.5304-1G>C | |
| XM_024446151.1:c.5304-1G>C | XP_024301919.1:n.5304-1G>C | |
| XM_024446152.1:c.5304-1G>C | XP_024301920.1:n.5304-1G>C | |
| XM_024446153.1:c.5304-1G>C | XP_024301921.1:n.5304-1G>C | |
| XM_024446154.1:c.4884-1G>C | XP_024301922.1:n.4884-1G>C | |
| XM_024446155.1:c.4497-1G>C | XP_024301923.1:n.4497-1G>C | |
| XM_024446156.1:c.4497-1G>C | XP_024301924.1:n.4497-1G>C | |
| XM_024446158.1:c.4497-1G>C | XP_024301926.1:n.4497-1G>C | |
| XM_024446159.1:c.4248-1G>C | XP_024301927.1:n.4248-1G>C | |
| XM_024446162.1:c.1038-1G>C | XP_024301930.1:n.1038-1G>C | |
| XM_024446163.1:c.798-1G>C | XP_024301931.1:n.798-1G>C | |
| NM_022455.5:c.5304-1G>C MANE Select | NP_071900.2:n.5304-1G>C | |
| NM_172349.3:c.4497-1G>C | NP_758859.1:n.4497-1G>C |