Linked Data
dbSNP Id:
rs10516430
ExAC:
4:99337881 C / T
gnomAD v2:
4-99337881-C-T
gnomAD v3:
4-98416730-C-T
gnomAD v4:
4-98416730-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.98416730C>T , CM000666.2:g.98416730C>T | GRCh38 |
| NC_000004.11:g.99337881C>T , CM000666.1:g.99337881C>T | GRCh37 |
| NC_000004.10:g.99556904C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000408927.8:c.764-15C>T MANE Select | ENSP00000386153.4:n.764-15C>T | |
| ENST00000264572.11:c.491-15C>T | ENSP00000264572.7:n.491-15C>T | |
| ENST00000339360.9:c.767-15C>T | ENSP00000340454.5:n.767-15C>T | |
| ENST00000380158.8:c.620-15C>T | ENSP00000369503.4:n.620-15C>T | |
| ENST00000408900.7:c.617-15C>T | ENSP00000386223.3:n.617-15C>T | |
| ENST00000408927.7:c.764-15C>T | ENSP00000386153.3:n.764-15C>T | |
| ENST00000453712.6:c.767-15C>T | ENSP00000407157.2:n.767-15C>T | |
| ENST00000509501.5:c.192-15C>T | ||
| NM_001100426.1:c.767-15C>T | NP_001093896.1:n.767-15C>T | |
| NM_001100427.1:c.764-15C>T | NP_001093897.1:n.764-15C>T | |
| NM_001100428.1:c.620-15C>T | NP_001093898.1:n.620-15C>T | |
| NM_001100429.1:c.617-15C>T | NP_001093899.1:n.617-15C>T | |
| NM_001100430.1:c.491-15C>T | NP_001093900.1:n.491-15C>T | |
| NM_021159.4:c.767-15C>T | NP_066982.3:n.767-15C>T | |
| XM_006714284.2:c.524-15C>T | XP_006714347.1:n.524-15C>T | |
| XM_006714285.2:c.377-15C>T | XP_006714348.1:n.377-15C>T | |
| XM_011532173.1:c.767-15C>T | XP_011530475.1:n.767-15C>T | |
| XM_024454164.1:c.764-15C>T | XP_024309932.1:n.764-15C>T | |
| XM_024454165.1:c.620-15C>T | XP_024309933.1:n.620-15C>T | |
| XM_024454166.1:c.617-15C>T | XP_024309934.1:n.617-15C>T | |
| XM_024454167.1:c.524-15C>T | XP_024309935.1:n.524-15C>T | |
| XM_024454168.1:c.524-15C>T | XP_024309936.1:n.524-15C>T | |
| XM_024454169.1:c.377-15C>T | XP_024309937.1:n.377-15C>T | |
| XM_024454170.1:c.377-15C>T | XP_024309938.1:n.377-15C>T | |
| XM_024454171.1:c.377-15C>T | XP_024309939.1:n.377-15C>T | |
| XM_024454172.1:c.377-15C>T | XP_024309940.1:n.377-15C>T | |
| XM_024454173.1:c.377-15C>T | XP_024309941.1:n.377-15C>T | |
| XM_024454174.1:c.230-15C>T | XP_024309942.1:n.230-15C>T | |
| XM_024454175.1:c.230-15C>T | XP_024309943.1:n.230-15C>T | |
| XM_024454176.1:c.230-15C>T | XP_024309944.1:n.230-15C>T | |
| XR_002959742.1:n.945-15C>T | ||
| XR_002959743.1:n.805-15C>T | ||
| XR_002959744.1:n.802-15C>T | ||
| NM_001100426.2:c.767-15C>T | NP_001093896.1:n.767-15C>T | |
| NM_001100427.2:c.764-15C>T MANE Select | NP_001093897.1:n.764-15C>T | |
| NM_001100428.2:c.620-15C>T | NP_001093898.1:n.620-15C>T | |
| NM_001100429.2:c.617-15C>T | NP_001093899.1:n.617-15C>T | |
| NM_001100430.2:c.491-15C>T | NP_001093900.1:n.491-15C>T | |
| NM_021159.5:c.767-15C>T | NP_066982.3:n.767-15C>T |