Linked Data
dbSNP Id:
rs754105328
ExAC:
14:24709409 G / A
gnomAD v2:
14-24709409-G-A
gnomAD v4:
14-24240203-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240203G>A , CM000676.2:g.24240203G>A | GRCh38 |
| NC_000014.8:g.24709409G>A , CM000676.1:g.24709409G>A | GRCh37 |
| NC_000014.7:g.23779249G>A | NCBI36 |
| NG_016650.1:g.7472C>T | |
| NG_054634.1:g.12787G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1521-48C>T | ||
| ENST00000557921.3:c.*212C>T | ENSP00000453157.3:n.*212C>T | |
| ENST00000699682.1:n.1667C>T | ||
| ENST00000699683.1:n.1717C>T | ||
| ENST00000699684.1:c.*870C>T | ENSP00000514523.1:n.*870C>T | |
| ENST00000699685.1:n.1481C>T | ||
| ENST00000699686.1:c.*212C>T | ENSP00000514524.1:n.*212C>T | |
| ENST00000699687.1:c.*212C>T | ENSP00000514525.1:n.*212C>T | |
| ENST00000699688.1:n.1477C>T | ||
| ENST00000699689.1:n.1833C>T | ||
| ENST00000699690.1:n.2030C>T | ||
| ENST00000699691.1:n.2174C>T | ||
| ENST00000699692.1:n.69-20C>T | ||
| ENST00000699693.1:n.1547-48C>T | ||
| ENST00000699694.1:n.1936C>T | ||
| ENST00000699695.1:c.*502-48C>T | ENSP00000514526.1:n.*502-48C>T | |
| ENST00000699696.1:n.1521-48C>T | ||
| ENST00000699697.1:c.*52C>T | ENSP00000514527.1:n.*52C>T | |
| ENST00000699698.1:n.1110C>T | ||
| ENST00000699699.1:n.1601C>T | ||
| ENST00000699700.1:n.1724C>T | ||
| ENST00000699701.1:c.*657C>T | ENSP00000514528.1:n.*657C>T | |
| ENST00000267415.12:c.1130-48C>T MANE Select | ENSP00000267415.7:n.1130-48C>T | |
| ENST00000646753.1:c.1025-48C>T | ENSP00000494065.1:n.1025-48C>T | |
| ENST00000267415.11:c.1130-48C>T | ENSP00000267415.7:n.1130-48C>T | |
| ENST00000399423.8:c.*212C>T | ENSP00000382350.4:n.*212C>T | |
| ENST00000557915.1:n.337-48C>T | ||
| ENST00000558566.1:c.*649C>T | ENSP00000453025.1:n.*649C>T | |
| ENST00000558703.1:n.40C>T | ||
| ENST00000559969.5:c.1035C>T | ||
| ENST00000560019.5:c.125-48C>T | ENSP00000453113.1:n.125-48C>T | |
| ENST00000626689.2:c.*502-48C>T | ENSP00000486681.1:n.*502-48C>T | |
| NM_001099274.1:c.1130-48C>T | NP_001092744.1:n.1130-48C>T | |
| NM_012461.2:c.*212C>T | NP_036593.2:n.*212C>T | |
| XM_005267528.2:c.1130-48C>T | XP_005267585.1:n.1130-48C>T | |
| XM_005267529.2:c.1025-48C>T | XP_005267586.1:n.1025-48C>T | |
| NM_001099274.2:c.1130-48C>T | NP_001092744.1:n.1130-48C>T | |
| NM_001363668.1:c.1025-48C>T | NP_001350597.1:n.1025-48C>T | |
| NM_012461.3:c.*212C>T | NP_036593.2:n.*212C>T | |
| XM_011536642.2:c.*657C>T | XP_011534944.1:n.*657C>T | |
| XM_017021216.2:c.488-48C>T | XP_016876705.1:n.488-48C>T | |
| XM_017021217.1:c.488-48C>T | XP_016876706.1:n.488-48C>T | |
| NM_001099274.3:c.1130-48C>T MANE Select | NP_001092744.1:n.1130-48C>T | |
| NM_001363668.2:c.1025-48C>T | NP_001350597.1:n.1025-48C>T |