Linked Data
ClinVar Variation Id:
346698
ClinVar RCV Id:
RCV000294238
dbSNP Id:
rs115128094
ExAC:
3:77629086 C / A
gnomAD v2:
3-77629086-C-A
gnomAD v3:
3-77579935-C-A
gnomAD v4:
3-77579935-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.77579935C>A , CM000665.2:g.77579935C>A | GRCh38 |
| NC_000003.11:g.77629086C>A , CM000665.1:g.77629086C>A | GRCh37 |
| NC_000003.10:g.77711776C>A | NCBI36 |
| NG_027734.1:g.1678242C>A | |
| NG_027734.2:g.1678242C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332191.13:c.2341-12C>A | ENSP00000327536.9:n.2341-12C>A | |
| ENST00000471893.2:c.2389-12C>A | ENSP00000418190.2:n.2389-12C>A | |
| ENST00000475334.2:c.2410-12C>A | ENSP00000418446.2:n.2410-12C>A | |
| ENST00000490534.2:c.2329-12C>A | ENSP00000417471.2:n.2329-12C>A | |
| ENST00000696574.1:c.2341-12C>A | ENSP00000512729.1:n.2341-12C>A | |
| ENST00000696593.1:c.2341-12C>A MANE Select | ENSP00000512738.1:n.2341-12C>A | |
| ENST00000696629.1:c.2389-12C>A | ENSP00000512766.1:n.2389-12C>A | |
| ENST00000696630.1:c.2389-12C>A | ENSP00000512767.1:n.2389-12C>A | |
| ENST00000696631.1:c.*636-12C>A | ENSP00000512768.1:n.*636-12C>A | |
| ENST00000705983.1:c.2329-12C>A | ENSP00000516193.1:n.2329-12C>A | |
| ENST00000332191.12:c.2329-12C>A | ENSP00000327536.8:n.2329-12C>A | |
| ENST00000461745.5:c.2329-12C>A | ENSP00000417164.1:n.2329-12C>A | |
| ENST00000473767.5:c.*773-12C>A | ENSP00000418117.1:n.*773-12C>A | |
| ENST00000487694.7:c.2377-12C>A | ENSP00000417335.2:n.2377-12C>A | |
| ENST00000602589.5:c.2389-12C>A | ENSP00000473268.1:n.2389-12C>A | |
| ENST00000614793.4:c.1945-12C>A | ENSP00000480344.1:n.1945-12C>A | |
| NM_001128929.3:c.2377-12C>A | NP_001122401.1:n.2377-12C>A | |
| NM_001290039.1:c.2341-12C>A | NP_001276968.1:n.2341-12C>A | |
| NM_001290040.1:c.2341-12C>A | NP_001276969.1:n.2341-12C>A | |
| NM_001290065.1:c.550-12C>A | NP_001276994.1:n.550-12C>A | |
| NM_002942.4:c.2329-12C>A | NP_002933.1:n.2329-12C>A | |
| XM_011533981.1:c.2410-12C>A | XP_011532283.1:n.2410-12C>A | |
| XM_011533982.1:c.2410-12C>A | XP_011532284.1:n.2410-12C>A | |
| XM_011533983.1:c.2410-12C>A | XP_011532285.1:n.2410-12C>A | |
| XM_011533984.1:c.2410-12C>A | XP_011532286.1:n.2410-12C>A | |
| XM_011533985.1:c.2410-12C>A | XP_011532287.1:n.2410-12C>A | |
| XM_011533981.2:c.2410-12C>A | XP_011532283.1:n.2410-12C>A | |
| XM_017006986.1:c.2341-12C>A | XP_016862475.1:n.2341-12C>A | |
| XM_017006987.1:c.2410-12C>A | XP_016862476.1:n.2410-12C>A | |
| XM_017006988.1:c.2410-12C>A | XP_016862477.1:n.2410-12C>A | |
| XM_017006989.1:c.2398-12C>A | XP_016862478.1:n.2398-12C>A | |
| XM_017006990.1:c.2389-12C>A | XP_016862479.1:n.2389-12C>A | |
| XM_017006991.1:c.2410-12C>A | XP_016862480.1:n.2410-12C>A | |
| XM_017006992.1:c.2389-12C>A | XP_016862481.1:n.2389-12C>A | |
| XM_017006993.1:c.2329-12C>A | XP_016862482.1:n.2329-12C>A | |
| XM_017006994.1:c.2410-12C>A | XP_016862483.1:n.2410-12C>A | |
| XM_017006995.1:c.2410-12C>A | XP_016862484.1:n.2410-12C>A | |
| XM_017006996.1:c.2389-12C>A | XP_016862485.1:n.2389-12C>A | |
| XM_017006997.1:c.2389-12C>A | XP_016862486.1:n.2389-12C>A | |
| XM_017006998.1:c.2341-12C>A | XP_016862487.1:n.2341-12C>A | |
| XM_017006999.1:c.2341-12C>A | XP_016862488.1:n.2341-12C>A | |
| XM_017007000.1:c.2329-12C>A | XP_016862489.1:n.2329-12C>A | |
| XM_017007001.1:c.2410-12C>A | XP_016862490.1:n.2410-12C>A | |
| XM_017007002.1:c.2410-12C>A | XP_016862491.1:n.2410-12C>A | |
| XM_017007003.1:c.2398-12C>A | XP_016862492.1:n.2398-12C>A | |
| XM_017007004.1:c.2389-12C>A | XP_016862493.1:n.2389-12C>A | |
| XM_017007005.1:c.2389-12C>A | XP_016862494.1:n.2389-12C>A | |
| XM_017007006.1:c.2341-12C>A | XP_016862495.1:n.2341-12C>A | |
| NM_001290039.2:c.2341-12C>A | NP_001276968.1:n.2341-12C>A | |
| NM_001290040.2:c.2341-12C>A | NP_001276969.1:n.2341-12C>A | |
| NM_001290065.2:c.550-12C>A | NP_001276994.1:n.550-12C>A | |
| NM_002942.5:c.2329-12C>A | NP_002933.1:n.2329-12C>A | |
| NM_001378190.1:c.2389-12C>A | NP_001365119.1:n.2389-12C>A | |
| NM_001378191.1:c.2389-12C>A | NP_001365120.1:n.2389-12C>A | |
| NM_001378192.1:c.2410-12C>A | NP_001365121.1:n.2410-12C>A | |
| NM_001378193.1:c.2329-12C>A | NP_001365122.1:n.2329-12C>A | |
| NM_001378194.1:c.2410-12C>A | NP_001365123.1:n.2410-12C>A | |
| NM_001378195.1:c.2389-12C>A | NP_001365124.1:n.2389-12C>A | |
| NM_001378196.1:c.2389-12C>A | NP_001365125.1:n.2389-12C>A | |
| NM_001378197.1:c.2329-12C>A | NP_001365126.1:n.2329-12C>A | |
| NM_001378198.1:c.2410-12C>A | NP_001365127.1:n.2410-12C>A | |
| NM_001378199.1:c.2410-12C>A | NP_001365128.1:n.2410-12C>A | |
| NM_001378200.1:c.2389-12C>A | NP_001365129.1:n.2389-12C>A | |
| NM_001378201.1:c.2389-12C>A | NP_001365130.1:n.2389-12C>A | |
| NM_001378202.1:c.2341-12C>A | NP_001365131.1:n.2341-12C>A | |
| NM_001378203.1:c.2389-12C>A | NP_001365132.1:n.2389-12C>A | |
| NM_001394212.1:c.2398-12C>A | NP_001381141.1:n.2398-12C>A | |
| NM_001394213.1:c.2410-12C>A | NP_001381142.1:n.2410-12C>A | |
| NM_001394214.1:c.2398-12C>A | NP_001381143.1:n.2398-12C>A | |
| NM_001395656.1:c.2341-12C>A MANE Select | NP_001382585.1:n.2341-12C>A | |
| NM_001395657.1:c.2398-12C>A | NP_001382586.1:n.2398-12C>A |