Linked Data
dbSNP Id:
rs4958456
gnomAD v2:
5-149623365-C-T
gnomAD v3:
5-150243802-C-T
gnomAD v4:
5-150243802-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150243802C>T , CM000667.2:g.150243802C>T | GRCh38 |
| NC_000005.9:g.149623365C>T , CM000667.1:g.149623365C>T | GRCh37 |
| NC_000005.8:g.149603558C>T | NCBI36 |
| NG_047040.1:g.51039G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348628.11:c.984+1359G>A | ENSP00000261793.8:n.984+1359G>A | |
| ENST00000672404.2:n.1148+1359G>A | ||
| ENST00000682786.1:c.984+1359G>A | ENSP00000507199.1:n.984+1359G>A | |
| ENST00000683115.1:n.1148+1359G>A | ||
| ENST00000683332.1:c.924+1359G>A | ENSP00000507006.1:n.924+1359G>A | |
| ENST00000684093.1:n.1142+1359G>A | ||
| ENST00000684465.1:n.1084+1359G>A | ||
| ENST00000398376.8:c.984+1359G>A | ENSP00000381412.4:n.984+1359G>A | |
| ENST00000510347.2:c.984+1359G>A | ENSP00000426607.2:n.984+1359G>A | |
| ENST00000671881.1:c.984+1359G>A MANE Select | ENSP00000500386.1:n.984+1359G>A | |
| ENST00000672089.1:c.984+1359G>A | ENSP00000500700.1:n.984+1359G>A | |
| ENST00000672396.1:c.984+1359G>A | ENSP00000499987.1:n.984+1359G>A | |
| ENST00000672404.1:c.829+1359G>A | ||
| ENST00000672479.1:c.984+1359G>A | ENSP00000500642.1:n.984+1359G>A | |
| ENST00000672752.1:c.984+1359G>A | ENSP00000499939.1:n.984+1359G>A | |
| ENST00000672785.1:c.951+1359G>A | ENSP00000500496.1:n.951+1359G>A | |
| ENST00000672829.1:c.984+1359G>A | ENSP00000500613.1:n.984+1359G>A | |
| ENST00000348628.10:c.984+1359G>A | ENSP00000261793.8:n.984+1359G>A | |
| ENST00000351010.6:n.168+1359G>A | ||
| ENST00000398376.7:c.984+1359G>A | ENSP00000381412.3:n.984+1359G>A | |
| ENST00000508662.5:n.1072+1359G>A | ||
| NM_015981.3:c.984+1359G>A | NP_057065.2:n.984+1359G>A | |
| NM_171825.2:c.984+1359G>A | NP_741960.1:n.984+1359G>A | |
| NM_001363989.1:c.984+1359G>A | NP_001350918.1:n.984+1359G>A | |
| NM_001363990.1:c.984+1359G>A | NP_001350919.1:n.984+1359G>A | |
| XM_017009898.2:c.984+1359G>A | XP_016865387.1:n.984+1359G>A | |
| NM_001369025.2:c.984+1359G>A | NP_001355954.1:n.984+1359G>A | |
| NM_015981.4:c.984+1359G>A MANE Select | NP_057065.2:n.984+1359G>A | |
| NM_171825.3:c.984+1359G>A | NP_741960.1:n.984+1359G>A |