Linked Data
dbSNP Id:
rs10065203
gnomAD v2:
5-14393621-C-T
gnomAD v3:
5-14393512-C-T
gnomAD v4:
5-14393512-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14393512C>T , CM000667.2:g.14393512C>T | GRCh38 |
| NC_000005.9:g.14393621C>T , CM000667.1:g.14393621C>T | GRCh37 |
| NC_000005.8:g.14446621C>T | NCBI36 |
| NG_052962.1:g.254811C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698541.1:c.4219-526C>T | ENSP00000513786.1:n.4219-526C>T | |
| ENST00000344204.9:c.4219-526C>T MANE Select | ENSP00000339299.4:n.4219-526C>T | |
| ENST00000344204.8:c.4219-526C>T | ENSP00000339299.4:n.4219-526C>T | |
| ENST00000502490.1:n.407-526C>T | ||
| ENST00000509967.6:c.4072-526C>T | ENSP00000445592.1:n.4072-526C>T | |
| ENST00000512070.6:c.4042-526C>T | ENSP00000421555.2:n.4042-526C>T | |
| ENST00000513206.5:c.3418-526C>T | ENSP00000426342.2:n.3418-526C>T | |
| ENST00000515144.5:n.3137-526C>T | ||
| NM_007118.2:c.4219-526C>T | NP_009049.2:n.4219-526C>T | |
| XM_011514107.1:c.4156-526C>T | XP_011512409.1:n.4156-526C>T | |
| XM_011514108.1:c.4102-526C>T | XP_011512410.1:n.4102-526C>T | |
| XM_011514109.1:c.4072-526C>T | XP_011512411.1:n.4072-526C>T | |
| XM_011514110.1:c.4042-526C>T | XP_011512412.1:n.4042-526C>T | |
| XM_011514111.1:c.4042-526C>T | XP_011512413.1:n.4042-526C>T | |
| XM_011514112.1:c.2764-526C>T | XP_011512414.1:n.2764-526C>T | |
| XM_011514113.1:c.4219-526C>T | XP_011512415.1:n.4219-526C>T | |
| XR_241714.1:n.4237-526C>T | ||
| NM_007118.3:c.4219-526C>T | NP_009049.2:n.4219-526C>T | |
| NR_134469.1:n.4243-526C>T | ||
| XM_011514107.2:c.4156-526C>T | XP_011512409.1:n.4156-526C>T | |
| XM_011514109.3:c.4072-526C>T | XP_011512411.1:n.4072-526C>T | |
| XM_011514110.3:c.4042-526C>T | XP_011512412.1:n.4042-526C>T | |
| XM_017009801.1:c.4219-526C>T | XP_016865290.1:n.4219-526C>T | |
| XM_017009802.1:c.4219-526C>T | XP_016865291.1:n.4219-526C>T | |
| XM_017009803.1:c.2764-526C>T | XP_016865292.1:n.2764-526C>T | |
| XR_001742236.2:n.4595-526C>T | ||
| NM_007118.4:c.4219-526C>T MANE Select | NP_009049.2:n.4219-526C>T | |
| NR_134469.2:n.4603-526C>T |