Linked Data
dbSNP Id:
rs12195230
gnomAD v2:
6-97500047-G-C
gnomAD v3:
6-97052171-G-C
gnomAD v4:
6-97052171-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.97052171G>C , CM000668.2:g.97052171G>C | GRCh38 |
| NC_000006.11:g.97500047G>C , CM000668.1:g.97500047G>C | GRCh37 |
| NC_000006.10:g.97606768G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369261.9:c.312+10572G>C MANE Select | ENSP00000358265.4:n.312+10572G>C | |
| ENST00000369254.5:c.312+10572G>C | ENSP00000358258.1:n.312+10572G>C | |
| ENST00000369261.8:c.312+10572G>C | ENSP00000358265.4:n.312+10572G>C | |
| ENST00000536676.5:c.205-12457G>C | ENSP00000440382.1:n.205-12457G>C | |
| ENST00000539200.5:c.205-32955G>C | ENSP00000441527.1:n.205-32955G>C | |
| ENST00000544166.5:c.-78+10572G>C | ENSP00000445453.1:n.-78+10572G>C | |
| ENST00000620278.1:c.-524-10162G>C | ENSP00000482012.1:n.-524-10162G>C | |
| NM_001286250.1:c.205-12457G>C | NP_001273179.1:n.205-12457G>C | |
| NM_001286251.1:c.205-32955G>C | NP_001273180.1:n.205-32955G>C | |
| NM_001286252.1:c.312+10572G>C | NP_001273181.1:n.312+10572G>C | |
| NM_001286254.1:c.-524-10162G>C | NP_001273183.1:n.-524-10162G>C | |
| NM_052904.3:c.312+10572G>C | NP_443136.2:n.312+10572G>C | |
| NR_104421.1:n.784+10572G>C | ||
| XM_005266812.3:c.105+10572G>C | XP_005266869.1:n.105+10572G>C | |
| XM_005266813.3:c.105+10572G>C | XP_005266870.1:n.105+10572G>C | |
| XM_005266814.2:c.105+10572G>C | XP_005266871.1:n.105+10572G>C | |
| XM_006715326.2:c.312+10572G>C | XP_006715389.1:n.312+10572G>C | |
| XM_011535414.1:c.312+10572G>C | XP_011533716.1:n.312+10572G>C | |
| XM_011535415.1:c.120+10572G>C | XP_011533717.1:n.120+10572G>C | |
| XM_011535416.1:c.105+10572G>C | XP_011533718.1:n.105+10572G>C | |
| XM_011535417.1:c.105+10572G>C | XP_011533719.1:n.105+10572G>C | |
| XM_011535418.1:c.312+10572G>C | XP_011533720.1:n.312+10572G>C | |
| NM_001286254.2:c.-524-10162G>C | NP_001273183.1:n.-524-10162G>C | |
| NM_001323252.1:c.312+10572G>C | NP_001310181.1:n.312+10572G>C | |
| NM_001323253.1:c.312+10572G>C | NP_001310182.1:n.312+10572G>C | |
| NM_001323254.1:c.312+10572G>C | NP_001310183.1:n.312+10572G>C | |
| NM_001323255.1:c.312+10572G>C | NP_001310184.1:n.312+10572G>C | |
| NM_001323256.1:c.312+10572G>C | NP_001310185.1:n.312+10572G>C | |
| NM_001323257.1:c.312+10572G>C | NP_001310186.1:n.312+10572G>C | |
| NM_001323258.1:c.312+10572G>C | NP_001310187.1:n.312+10572G>C | |
| NM_001323259.1:c.312+10572G>C | NP_001310188.1:n.312+10572G>C | |
| NM_001323260.1:c.-354+10572G>C | NP_001310189.1:n.-354+10572G>C | |
| NM_001323261.1:c.-354+10572G>C | NP_001310190.1:n.-354+10572G>C | |
| NM_001323262.1:c.-354+10572G>C | NP_001310191.1:n.-354+10572G>C | |
| NM_001323263.1:c.120+10572G>C | NP_001310192.1:n.120+10572G>C | |
| NM_001323264.1:c.120+10572G>C | NP_001310193.1:n.120+10572G>C | |
| NR_136579.1:n.298+10572G>C | ||
| NR_136580.1:n.784+10572G>C | ||
| XM_005266813.5:c.105+10572G>C | XP_005266870.1:n.105+10572G>C | |
| XM_017010228.2:c.105+10572G>C | XP_016865717.1:n.105+10572G>C | |
| XM_017010229.2:c.-383+10572G>C | XP_016865718.1:n.-383+10572G>C | |
| XR_001743153.2:n.191+10572G>C | ||
| NM_052904.4:c.312+10572G>C MANE Select | NP_443136.2:n.312+10572G>C | |
| NM_001286252.2:c.312+10572G>C | NP_001273181.1:n.312+10572G>C | |
| NM_001323255.2:c.312+10572G>C | NP_001310184.1:n.312+10572G>C | |
| NM_001323256.2:c.312+10572G>C | NP_001310185.1:n.312+10572G>C | |
| NM_001323259.2:c.312+10572G>C | NP_001310188.1:n.312+10572G>C | |
| NM_001286250.2:c.205-12457G>C | NP_001273179.1:n.205-12457G>C | |
| NM_001286251.2:c.205-32955G>C | NP_001273180.1:n.205-32955G>C | |
| NM_001286254.3:c.-524-10162G>C | NP_001273183.1:n.-524-10162G>C | |
| NM_001323252.2:c.312+10572G>C | NP_001310181.1:n.312+10572G>C | |
| NM_001323253.2:c.312+10572G>C | NP_001310182.1:n.312+10572G>C | |
| NM_001323254.2:c.312+10572G>C | NP_001310183.1:n.312+10572G>C | |
| NM_001323257.2:c.312+10572G>C | NP_001310186.1:n.312+10572G>C | |
| NM_001323258.2:c.312+10572G>C | NP_001310187.1:n.312+10572G>C | |
| NM_001323260.2:c.-354+10572G>C | NP_001310189.1:n.-354+10572G>C | |
| NM_001323261.2:c.-354+10572G>C | NP_001310190.1:n.-354+10572G>C | |
| NM_001323262.2:c.-354+10572G>C | NP_001310191.1:n.-354+10572G>C | |
| NM_001323263.2:c.120+10572G>C | NP_001310192.1:n.120+10572G>C | |
| NM_001323264.2:c.120+10572G>C | NP_001310193.1:n.120+10572G>C | |
| NR_104421.2:n.676+10572G>C | ||
| NR_136579.2:n.174+10572G>C | ||
| NR_136580.2:n.676+10572G>C |